RESUMO Objetivo: Reconhecer e abordar a síndrome de Patau, apesar de sua raridade e da baixa expectativa de vida associada, por meio da apresentação de um estudo de caso de uma paciente de dois anos que recebe cuidados em casa por intermédio de serviços de home care. Descrição do caso: Apresentamos uma paciente do sexo feminino que desafiou as probabilidades, com sobrevivência prolongada devida, possivelmente, ao home care. Ela nasceu por cesariana, com 31 semanas + 4 dias, em razão da restrição do crescimento uterino. A mãe, de 36 anos, recebeu cuidados pré-natais adequados e gozava de boa saúde. O diagnóstico da síndrome de Patau foi confirmado por meio de cariótipo após o nascimento. Apesar da gravidade clínica do caso, a paciente, hoje com dois anos, recebe atendimento domiciliar especializado, apoiado por traqueostomia e gastrostomia. Um técnico de enfermagem dedicado 24 horas garante acompanhamento contínuo, e a paciente beneficia-se de check-ups médicos regulares, fisioterapia cinco vezes por semana, sessões semanais de fonoaudiologia, consultas mensais com nutricionista e apoio psicológico contínuo aos familiares. Comentários: Esta abordagem multidisciplinar resultou em melhora motora discreta, destacando o impacto positivo do cuidado integral no seu bem-estar geral. A existência de uma rede robusta de apoio às famílias que enfrentam desafios semelhantes é crucial, e um cuidado multidisciplinar pode prevenir eficazmente as complicações associadas a esta impactante síndrome. Objetivo associada care probabilidades devida possivelmente cesariana 3 dias uterino mãe prénatais pré natais saúde nascimento especializado gastrostomia 2 beneficiase beneficia se checkups check ups regulares semana fonoaudiologia familiares Comentários discreta bemestar bem estar geral crucial

ABSTRACT Objective: To recognize and address Patau’s syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. Case description: We present a female patient who defied the odds with a prolonged survival, possible due to Home Care. She was delivered via cesarean section at 31 weeks + 4 days due to restricted uterine growth. The mother, aged 36, had received proper prenatal care and was in good health. The diagnosis of Patau’s syndrome was confirmed through karyotyping after birth. Despite the severe clinical nature of the case, the patient, now with two years old, receives specialized home-based care, supported by a tracheostomy and gastrostomy. A dedicated 24-hour nursing technician ensures continuous monitoring, and the patient benefits from regular medical check-ups, physiotherapy five times a week, weekly speech therapy sessions, monthly consultations with a nutritionist, and ongoing psychological support for her family members. Comments: This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome. Objective Pataus Patau s expectancy 2yearold yearold 2 year old services description survival 3 growth mother 36 health birth homebased home based gastrostomy 24hour hour 24 monitoring checkups, checkups check ups, ups check-ups week sessions nutritionist members Comments response wellbeing. wellbeing well being. being well-being crucial

Abstract Hydrops fetalis corresponds to the accumulation of fluid in soft tissues and/or body cavities. Hydrops fetalis is classified as immune (IFH) and non-immune (NIFH). NIFH can be secondary to multiple etiologies: aneuploidy, congenital heart disease, and various monogenic disorders. The prenatal exome increases the diagnostic yield by 3-19% in cases of NIFH with normal karyotype and microarray, if isolated or associated with other anomalies, respectively. Aberrant development of the lymphatic system has been associated with more than 20 genetic variants, one of them in the PIEZO1 gene that produces two diseases: hereditary dehydrated stomatocytosis and lymphatic malformation 6, both conditions related to NIFH with similar phenotypes. We report a case of NIFH with normal conventional cytogenetic study in which a prenatal exome study was performed identifying a pathogenic variant in PIEZO1 gene allowing to establish that both conditions have a favorable perinatal prognosis. The prenatal exome study of NIFH with normal karyotype is widely justified, despite its high cost and low accessibility in our setting, to stablish the perinatal prognosis and adequately advise parents in terms of recurrence.

Resumen La hidropesía fetal corresponde a la acumulación de líquido en tejidos blandos y/o cavidades corporales. La hidropesía fetal se clasifica en inmune (HFI) y no inmune (HFNI). La HFNI puede ser secundaria a múltiples causas: aneuploidías, cardiopatías congénitas y diversos trastornos monogénicos que afectan a diversos sistemas. El exoma prenatal aumenta el rendimiento diagnóstico un 3-19% en casos de HFNI con cariotipo y microarreglo normal, si es aislado o está asociado a otras anomalías, respectivamente. El desarrollo anómalo del sistema linfático se ha asociado con más de 20 variantes, una de ellas en el gen PIEZO1 que produce dos enfermedades: estomatocitosis hereditaria deshidratada y la malformación linfática 6, ambas condiciones relacionadas con HFNI con fenotipos similares. Se reporta un caso de HFNI con estudio citogenético convencional normal en que se realiza estudio del exoma prenatal identificando una variante patogénica en gen PIEZO1, permitiendo establecer que ambas condiciones poseen un pronóstico perinatal favorable. El estudio con exoma prenatal de la HFNI con cariotipo normal se justifica ampliamente, a pesar de su alto costo y escasa disponibilidad aún en nuestro medio, para precisar el pronóstico perinatal y asesorar de forma adecuada a los padres en términos de recurrencia.

Abstract Objective: To determine the frequency of patients diagnosed with chromosome 9 disorders in a pediatric hospital between the years 2012 and 2022. Materials and methods: A cross-sectional and descriptive study was performed in 2932 patients who attended the genetics consultation of a pediatric hospital in Tabasco, Mexico, from January 2012 to December 2022, based on the results of chromosomal diagnosis in peripheral blood. Results: Chromosomal alterations were present in 14.76% (433/2932). The most frequently involved chromosome was number 21 in 83.37% (361/433), followed by sex chromosome X with 5.31% (23/433) and chromosome 9 with 3.69% (16/433). Regarding chromosome 9, 50% (8/16) corresponded to morphological variants (9qh+), followed by pericentric inversion in 3 of the cases (18.75%), deletion in 2 (12.5%), insertion in 1 (6.6%), ring in 1 (6.6%), and a shunt (6.6%). Conclusion: The cytogenetic results found, according to the patients' reasons for referral, suggest the performance of peripheral blood karyotyping as a useful tool in the diagnosis of diseases with genetic suspicion.

Resumen Objetivo: Determinar la frecuencia de pacientes diagnosticados con alteraciones del cromosoma 9 en un hospital pediátrico entre los años 2012 y 2022. Materiales y métodos: Se realizó un estudio retrospectivo en 2932 pacientes que acudieron a la consulta de genética de un hospital pediátrico de Tabasco, México, de enero de 2012 a diciembre de 2022, a partir de los resultados del diagnóstico cromosómico en sangre periférica. Resultados: El 14.76% (433/2932) presentaron alteraciones cromosómicas. El cromosoma más frecuentemente involucrado fue el número 21 en el 83.37% (361/433), seguido del cromosoma sexual X con el 5.31% (23/433) y el cromosoma 9 con 3.69% (16/433). En relación al cromosoma 9, el 50% (8/16) correspondieron a variantes morfológicas (9qh+), seguido de la inversión pericéntrica en 3 de los casos (18.75%), la deleción en 2 (12.5%), inserción en 1 (6.6%), anillo en 1 (6.6%), y una derivación (6.6%). Conclusión: Los resultados citogenéticos encontrados, de acuerdo a los motivos de referencia de los pacientes, sugiere la realización del cariotipo en sangre periférica como herramienta útil en el diagnóstico de enfermedades con sospecha genética.

Abstract: Alagille syndrome (ALGS) is an autosomal dominant, multisystem disorder that typically presents with cholestasis, cardiac, ocular, skeletal, vascular and renal abnormalities, and distinct facial features. Most cases are due to variants in the JAG1 gene, with only a small percentage involving a complete gene deletion. Objective: to contribute to the phenotype delineation and interpretation of a microdeletion not previously described in the literature on chromosome 20. Clinical Case: A 4-month-old female patient was diagnosed with a heart murmur. An echocardiogram revealed pulmonary artery stenosis, which, combined with a prominent forehead observed on physical examination, determined her referral to clinical genetics. Because ALGS was suspected, complementary studies were performed, revealing butterfly vertebras and a genetic panel identified a pathogenic heterozygous deletion, encompassing the entire coding sequence of the JAG1 gene. To rule out a more extensive deletion, a chromosome microarray was performed, confirming a pathogenic microdeletion on chromosome 20 of 378 kb (arr[GRCh37] 20p12.2(10414643_10792802)x1). Conclusions: A targeted sequencing panel followed by confirmation with a chromosome microarray allowed the identification and delineation of a pathogenic microdeletion not previously reported in the literature, including the complete JAG1 gene in a Chilean patient whose phenotype is consistent with ALGS.

Resumen: El síndrome de Alagille (SALG) es una enfermedad autosómica dominante y multisistémica, que suele manifestarse con colestasia, anomalías cardiacas, oculares, esqueléticas, vasculares, renales y rasgos faciales particulares. La mayoría de los casos se deben a variantes en el gen JAG1, siendo muy pocas de ellas deleciones completas del gen. Objetivo: Contribuir a la delimitación fenotípica e interpretación de una microdeleción no descrita previamente en la literatura en el cromosoma 20. Caso Clínico: Paciente de sexo femenino, a quién a los 4 meses de vida se le detectó un soplo cardíaco. El ecocardiograma evidenció estenosis de ramas pulmonares, lo que, junto con el hallazgo de una frente prominente en el examen físico, motivó su derivación a genética clínica. Debido a la sospecha de SALG, se realizaron estudios complementarios que revelaron vértebras en mariposa y un panel genético que identificó una deleción patogénica en heterocigosis, abarcando toda la secuencia codificante del gen JAG1. Para descartar una deleción más extensa, se realizó un cariotipo molecular confirmándose una microdeleción patogénica en el cromosoma 20 de 378 kb (arr[GRCh37] 20p12.2(10414643_10792802)x1). Conclusiones: La secuenciación con panel dirigido y posterior confirmación con microarreglo para cariotipo molecular, permitieron identificar y delimitar una microdeleción patogénica no reportada previamente en la literatura, la cual incluye el gen JAG1 completo, en una paciente chilena cuyo fenotipo es concordante con SALG.

Abstract: Alagille syndrome (ALGS) is an autosomal dominant, multisystem disorder that typically presents with cholestasis, cardiac, ocular, skeletal, vascular and renal abnormalities, and distinct facial features. Most cases are due to variants in the JAG1 gene, with only a small percentage involving a complete gene deletion. Objective: to contribute to the phenotype delineation and interpretation of a microdeletion not previously described in the literature on chromosome 20. Clinical Case: A 4-month-old female patient was diagnosed with a heart murmur. An echocardiogram revealed pulmonary artery stenosis, which, combined with a prominent forehead observed on physical examination, determined her referral to clinical genetics. Because ALGS was suspected, complementary studies were performed, revealing butterfly vertebras and a genetic panel identified a pathogenic heterozygous deletion, encompassing the entire coding sequence of the JAG1 gene. To rule out a more extensive deletion, a chromosome microarray was performed, confirming a pathogenic microdeletion on chromosome 20 of 378 kb (arr[GRCh37] 20p12.2(10414643_10792802)x1). Conclusions: A targeted sequencing panel followed by confirmation with a chromosome microarray allowed the identification and delineation of a pathogenic microdeletion not previously reported in the literature, including the complete JAG1 gene in a Chilean patient whose phenotype is consistent with ALGS.

Resumen: El síndrome de Alagille (SALG) es una enfermedad autosómica dominante y multisistémica, que suele manifestarse con colestasia, anomalías cardiacas, oculares, esqueléticas, vasculares, renales y rasgos faciales particulares. La mayoría de los casos se deben a variantes en el gen JAG1, siendo muy pocas de ellas deleciones completas del gen. Objetivo: Contribuir a la delimitación fenotípica e interpretación de una microdeleción no descrita previamente en la literatura en el cromosoma 20. Caso Clínico: Paciente de sexo femenino, a quién a los 4 meses de vida se le detectó un soplo cardíaco. El ecocardiograma evidenció estenosis de ramas pulmonares, lo que, junto con el hallazgo de una frente prominente en el examen físico, motivó su derivación a genética clínica. Debido a la sospecha de SALG, se realizaron estudios complementarios que revelaron vértebras en mariposa y un panel genético que identificó una deleción patogénica en heterocigosis, abarcando toda la secuencia codificante del gen JAG1. Para descartar una deleción más extensa, se realizó un cariotipo molecular confirmándose una microdeleción patogénica en el cromosoma 20 de 378 kb (arr[GRCh37] 20p12.2(10414643_10792802)x1). Conclusiones: La secuenciación con panel dirigido y posterior confirmación con microarreglo para cariotipo molecular, permitieron identificar y delimitar una microdeleción patogénica no reportada previamente en la literatura, la cual incluye el gen JAG1 completo, en una paciente chilena cuyo fenotipo es concordante con SALG.

Resumen: Introducción: la trisomía 21 o síndrome de Down (SD) es la alteración cromosómica más frecuente, con una incidencia general de 1 en 600 a 800 recién nacidos vivos. Su diagnóstico es de sospecha clínica y confirmación citogenética. Las cardiopatías congénitas y las malformaciones gastrointestinales son frecuentes, al igual que las alteraciones hematológicas y desórdenes tiroideos. Material y método: estudio descriptivo con el objetivo de detallar las características fenotípicas, genéticas, malformaciones y morbilidades asociadas en los pacientes con trisomía 21 nacidos en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell entre el 1 de julio de 2017 y el 1 de julio de 2021. Resultados: se incluyeron 56 pacientes, 30/56 fueron de sexo masculino, la media de edad gestacional fue de 37 semanas. Un total de 17 pacientes fue pretérmino. De los pacientes estudiados, 45/56 presentaron trisomía libre en el cariotipo. La hipotonía fue el signo más frecuentemente observado en el examen clínico. El defecto congénito más frecuente, en 34 pacientes, fue la cardiopatía congénita. La más frecuente fue la comunicación interauricular (CIA), seguida de la comunicación interventricular (CIV) en segundo lugar y el canal atrioventricular (canal AV) en tercer lugar. Se encontraron 23 pacientes con alteraciones en el hemograma, siendo la plaquetopenia la alteración más observada. A nueve pacientes se les realizó diagnóstico de hipotiroidismo y la mortalidad global durante la internación fue de 1,78%. Conclusiones: se destaca la alta prevalencia de prematurez y de defectos congénitos asociados, siendo la cardiopatía congénita la más frecuente.

Summary: Introduction: trisomy 21 or Down Syndrome is the most frequent chromosomal alteration, with a general incidence of 1 in 600 to 800 live newborns. Diagnosis is based on clinical suspicion and cytogenetic confirmation. Congenital heart disease and gastrointestinal malformations are frequent, as are hematological abnormalities and thyroid disorders. Materials and Methods: descriptive study with the objective of describing the phenotypic and genetic characteristics, malformations and associated morbidities in patients with trisomy 21 born in the neonatology service of the Pereira Rossell Hospital between July 1, 2017 and July 1, 2021. Results: 56 patients were included, 30/56 were male, the mean gestational age was 37 weeks. A total of 17 patients were preterm. Of the patients studied, 45/56 presented free trisomy in the karyotype. Hypotonia was the most frequently observed sign on clinical examination. The most common birth defect, in 34 patients, was congenital heart disease. Among them, the most frequent defect was interatrial septal defect (CIA), followed by interventricular septal defect (VSD) and thirdly, atrioventricular canal (AV canal). Twenty-three patients with alterations in the complete blood count were found, being thrombocytopenia the most observed alteration. Nine patients were diagnosed with hypothyroidism and overall mortality during hospitalization was 1.78%. Conclusions: we must highlight the high prevalence of prematurity and associated congenital defects, being congenital heart disease the most frequent.

Resumo: Introdução: a Trissomia do 21 ou Síndrome de Down é a alteração cromossômica mais frequente, com incidência geral de 1 em 600 a 800 recém-nascidos vivos. Seu diagnóstico é baseado na suspeita clínica e na confirmação citogenética. Doenças cardíacas congênitas e malformações gastrointestinais são frequentes, assim como anomalias hematológicas e distúrbios da tireoide. Materiais e métodos: estudo descritivo com objetivo de descrever as características fenotípicas e genéticas, malformações e morbidades associadas em pacientes com trissomia dos 21 nascidos no serviço de Neonatologia do Hospital Pereira Rossell entre 1º de julho de 2017 e 1º de julho de 2021. Resultados: foram incluídos 56 pacientes, 30/56 do sexo masculino, idade gestacional média de 37 semanas. Um total de 17 pacientes foram prematuros. Dos pacientes estudados, 45/56 apresentavam trissomia livre no cariótipo. A hipotonia foi o sinal mais frequentemente observado no exame clínico. O defeito congênito mais comum, em 34 pacientes, foi a cardiopatia congênita. Dentre eles, o mais frequente foi a comunicação interatrial (CIA), seguida pela comunicação interventricular (CIV) em segundo lugar e pelo canal atrioventricular (canal AV) em terceiro lugar. Foram encontrados 23 pacientes com alterações no hemograma completo, sendo a trombocitopenia a alteração mais observada. Nove pacientes foram diagnosticados com hipotireoidismo e a mortalidade geral durante a internação foi de 1,78%. Conclusões: destaca-se a alta prevalência de prematuridade e defeitos congênitos associados, sendo as cardiopatias congênitas as mais frequentes.

RESUMO Objetivo: Verificar a prevalência e realizar a caracterização clínica das fissuras orais em uma amostra de pacientes com trissomia do cromossomo 18 no sul do Brasil. Métodos: Este foi um estudo transversal retrospectivo, realizado em um serviço de referência em genética clínica do sul do Brasil. A amostra inicial foi composta de 77 pacientes com diagnóstico no período neonatal de trissomia 18 atendidos no Serviço de Genética Clínica da Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA). O diagnóstico dos pacientes foi confirmado por cariótipo e os atendimentos foram realizados durante sua internação na unidade de terapia intensiva (UTI) de hospital de referência no sul do Brasil para atendimento em pacientes malformados. O período abrangido foi de 1975 a 2020. Resultados: Durante o período do estudo foram atendidos, a maioria na UTI do hospital, 77 pacientes com diagnóstico de trissomia do cromossomo 18. Destes, 13 indivíduos foram excluídos por apresentarem dados incompletos. A amostra final foi de 64 pacientes, com idade média de 2,4 anos de vida, variando de um dia de vida a 16 anos, a maioria do sexo feminino. Com relação aos dismorfismos faciais identificados na amostra, três (4,68%) pacientes apresentavam fissuras labiais e dois (3,11%) fissuras labiopalatinas. Conclusões: Este estudo trouxe como contribuições o reconhecimento das características e a prevalência das fendas orais nos indivíduos com trissomia do cromossomo 18 em uma amostra de pacientes do sul do Brasil. Além disso, descrevemos as alterações clínicas encontradas em pacientes com fissuras orais, bem como outras comorbidades associadas, como comorbidades cardíacas, neurológicas e pulmonares, além de dismorfismos cranianos e faciais. Objetivo 1 Métodos retrospectivo 7 UFCSPA. UFCSPA . (UFCSPA) (UTI malformados 197 2020 Resultados Destes incompletos 6 24 2 4 2, feminino 4,68% 468 68 (4,68% 3,11% 311 3 11 (3,11% labiopalatinas Conclusões disso associadas cardíacas pulmonares (UFCSPA 19 202 4,68 46 (4,68 3,11 31 (3,11 20 4,6 (4,6 3,1 (3,1 4, (4, 3, (3, (4 (3 (

ABSTRACT Objective: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil. Methods: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients’ diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020. Results: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate. Conclusions: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms. Objective 1 Methods crosssectional cross sectional 7 UFCSPA. UFCSPA . (UFCSPA) ICU (ICU 197 2020 Results these data 6 24 2 4 2. life old female 4,68% 468 68 (4,68% 3,11% 311 3 11 (3,11% palate Conclusions addition comorbidities cardiac (UFCSPA 19 202 4,68 46 (4,68 3,11 31 (3,11 20 4,6 (4,6 3,1 (3,1 4, (4, 3, (3, (4 (3 (

ABSTRACT Wild lettuce (Lactuca aff. canadensis L.), belonging to the Asteraceae family, occurs subspontaneously in Brazil and may originate from Africa, Asia, Europe and North America. Popularly known as Canada lettuce, it is an unconventional leafy vegetable. Studies on this species are scarce in Brazil, and its scientific name is debated among experts. It has high morphological variability and controversial botanical classification. This study characterized the stomata, organized the karyotype, and determined the nuclear DNA content of four morphotypes of wild lettuce to facilitate correct classification. The genetic material used was acquired from the non-conventional vegetable germplasm in UFLA. The leaves of wild lettuce morphotypes are hypoamphiestomatic with a greater number of stomata in the abaxial epidermis. There were similarities between the morphotypes (green and purple) and between the smooth purple types (narrow leaf and broad leaf) for the number and size of stomata. No variation was found in the number of chromosomes (2n = 18) or DNA content among the four morphotypes. The separation of the morphotypes of wild lettuce did not match the morphological classification or the karyological data. The four morphotypes evaluated were placed under the same species, and the results obtained when compared to other studies led us to infer that the four morphotypes of wild Lactuca belonged to the species L. indica and not L. canadensis as previously assumed. Further investigation may provide insights into the evolutionary history of this species. aff L., L , L.) family Africa Asia America experts karyotype nonconventional non conventional UFLA epidermis green narrow 2n n 18 data assumed 1

RESUMO A alface silvestre (Lactuca aff. canadensis L.), pertencente à família Asteraceae, ocorre de forma subespontânea no Brasil e pode ser originária da África, Ásia, Europa e América do Norte. Popularmente conhecida como alface canadense, é um vegetal folhoso não convencional. Os estudos sobre esta espécie são escassos no Brasil e seu nome científico é debatido entre especialistas. Possui alta variabilidade morfológica e classificação botânica controversa. Este estudo caracterizou os estômatos, organizou o cariótipo e determinou o conteúdo de DNA nuclear de quatro morfotipos de alface silvestre para facilitar a classificação correta. O material genético utilizado foi adquirido do germoplasma vegetal não convencional da UFLA. As folhas dos morfotipos de alface silvestre são hipoanfiestomáticas com maior número de estômatos na epiderme abaxial. Houve semelhanças entre os morfotipos (verde e roxo) e entre os tipos roxos lisos (folha estreita e folha larga) quanto ao número e tamanho dos estômatos. Nenhuma variação foi encontrada no número de cromossomos (2n = 18) ou no conteúdo de DNA entre os quatro morfotipos. A separação dos morfotipos de alface silvestre não correspondeu à classificação morfológica nem aos dados cariológicos. Os quatro morfotipos avaliados foram colocados sob a mesma espécie, e os resultados obtidos quando comparados com outros estudos nos levaram a inferir que os quatro morfotipos de Lactuca selvagem pertenciam à espécie L. indica e não a L. canadensis como se supunha anteriormente. Investigações adicionais podem fornecer conhecimento sobre a história evolutiva desta espécie. aff L., L , L.) Asteraceae África Ásia Norte canadense especialistas controversa correta UFLA abaxial verde roxo larga 2n n 18 cariológicos anteriormente 1

Abstract A new species of cactus, Tacinga mirim (Cactaceae: Opuntioideae), is described and illustrated. Tacinga mirim is like a miniature version of T. palmadora, as far as is known, endemic to the state of Ceará, Northeastern Brazil. Although some populations of the new species have been known since 2009, they had been wrongly identified as T. palmadora. The description of the new species was made based on morphological and karyotypic analysis. Morphologically, it differs from T. palmadora by the much smaller size, semi-prostrate habit, smaller and deciduous stem-segments, lower density of spines, slightly larger and wide-open flowers, smooth pericarpel, and the globose to obovoid, purplish ripe fruit. The karyotype of T. mirim differs from T. palmadora in being tetraploid (not diploid), by presenting chromosomes that are twice as large, eight of which are submetacentric (differing from the fully metacentric standard karyotype of T. palmadora). The distribution of the new species is associated with the Caatinga of the crystalline basement of the northwestern hinterland of Ceará, found at relatively low altitudes (190-360 m). The IUCN category of threat for the new taxon was preliminary assessed. Both EOO and AOO indicate that the species is endangered (EN-B1-2ab). cactus Cactaceae (Cactaceae Opuntioideae, Opuntioideae , Opuntioideae) illustrated T Ceará Brazil 2009 analysis Morphologically size semiprostrate semi prostrate habit stemsegments, stemsegments stem segments, segments stem-segments spines wideopen wide open flowers pericarpel obovoid fruit not diploid, diploid diploid) large differing . palmadora) 190360 190 360 (190-36 m. m m) assessed ENB12ab. ENB12ab ENBab EN B1 2ab B ab (EN-B1-2ab) 200 19036 19 36 (190-3 ENB (EN-B1-2ab 20 1903 1 3 (190- 2 (190 (19 (1 (

Resumo Uma nova espécie de cacto, Tacinga mirim (Cactacaeae: Opuntioideae), é descrita e ilustrada. Tacinga mirim é como uma miniatura de T. palmadora, até onde se sabe, endêmica do estado do Ceará, nordeste do Brasil. Apesar de algumas populações da nova espécie serem conhecidas desde 2009, elas vinham sendo erroneamente identificadas como T. palmadora. A descrição da nova espécie foi feita a partir de análise morfológica e cariotípica. Morfologicamente defere de T. palmadora pelo tamanho muito menor, o hábito semiprostrado, os segmentos menores e decíduos, a menor densidade de espinhos, flores um pouco maiores e com grande angulo de abertura, pericarpelo liso e o fruto globoso a obovóide, roxo quando maduro. O cariótipo de T. mirim difere de T. palmadora por ser tetraploide (ao invés de diplóide), por apresentar cromossomos duas vezes maiores, dos quais oito são submetacêntricos (diferindo do padrão cariotípico totalmente metacêntrico de T. palmadora). A distribuição da nova espécie está associada à Caatinga do embasamento cristalino do interior do Ceará, em altitudes relativamente baixas (190-360 m). A categoria de ameaça do novo táxon segundo a IUCN foi avaliada preliminarmente. Tanto a EOO como a AOO indicam que a espécie é ameaçada (EN-B1-2ab). cacto Cactacaeae (Cactacaeae Opuntioideae, Opuntioideae , Opuntioideae) ilustrada T sabe Ceará Brasil 2009 cariotípica semiprostrado decíduos espinhos abertura obovóide maduro ao diplóide, diplóide diplóide) diferindo . palmadora) 190360 190 360 (190-36 m. m m) preliminarmente ENB12ab. ENB12ab ENBab EN B1 2ab B ab (EN-B1-2ab) 200 19036 19 36 (190-3 ENB (EN-B1-2ab 20 1903 1 3 (190- 2 (190 (19 (1 (

Abstract: Turner syndrome is a genetic disorder that occurs in women with partial or complete absence of an X chromosome. Objective: To describe the clinical, laboratory, and genotypic characteristics of patients with Turner syndrome, treated at three health institutions in Medellin. Patients and Method: A retrospective study was carried out. A total of 97 patients with Turner syndrome (< 18 years) confirmed by karyotype between 2011 and 2018 were included. Patients whose karyotype did not meet the specification of the American College of Medical Genetics were excluded. Data on sociodemographic details, nutritional variables, phenotypic characteristics, and laboratory tests were collected. A descriptive analysis was performed in SPSS software version 20. Results: Median age at diagnosis was 8.5 years (IQR 4-12). The main clinical characteristic was short stature (90%). Additionally, they presented cardiovascular malformations (35%), renal alterations (26%), hearing disorders, mainly hypoacusis (33%), and neuropsychiatric disorders (44%). The most frequent karyotype was 45,X (51%) followed by 45,X/46,XX (14%). The patients with 45,X karyotype had the most classic clinical characteristics. Patients > 5 years old had a higher proportion of weight excess than the general population. Dyslipidemia was found in 62% and hypothyroidism in 22%. 70% of patients > 11 years received pubertal induction; 23% presented spontaneous puberty and 44% of them required hormonal maintenance. 86% received somatropin. Conclusion: The patients with Turner syndrome in our study presented a high frequency of short stature and cardiovascular, renal, hearing, endocrine, and neuropsychiatric comorbidities. The diagnosis was delayed due to the lack of clinical suspicion given its variable presentation.

Resumen: El síndrome de Turner es un trastorno genético que se presenta en mujeres con ausencia parcial o completa de un cromosoma X. Objetivo: Describir las características clínicas, paraclínicas y genotípicas de las pacientes con síndrome de Turner atendidas en tres instituciones de salud de Medellín. Pacientes y Método: Estudio descriptivo retrospectivo. Se incluyeron 97 pacientes con síndrome de Turner (< 18 años) confirmado por cariotipo entre 2011 y 2018. Se excluyeron pacientes cuyo cariotipo no cumplía la especificación del Colegio Americano de Genética Médica. Se recolectaron variables sociodemográficas, nutricionales, características fenotípicas y exámenes de laboratorio. Se realizó un análisis descriptivo en SPSS versión 20. Resultados: La edad al diagnóstico fue de 8,5 años (RIC 4-12). La principal manifestación clínica fue la talla baja (90%). Presentaron malformaciones cardiovasculares (35%), malformaciones renales (26%), trastornos auditivos destacándose la hipoacusia (33%), trastornos neuropsiquiátricos (44%). El cariotipo más frecuente fue 45,X (51%) seguido de 45,X/46,XX (14%). Las pacientes con cariotipo 45,X tuvieron las manifestaciones clínicas más clásicas. Las mayores de 5 años presentaron mayor proporción de exceso de peso. Se encontró dislipidemia en 62% e hipotiroidismo en 22%. El 70% de las pacientes mayores de 11 años recibieron inducción puberal; el 23% presentaron pubertad espontánea y de ellas el 44% requirieron mantenimiento hormonal. El 86% recibieron somatropina. Conclusiones: Las pacientes con síndrome de Turner de nuestro estudio presentaron alta frecuencia de talla baja y comorbilidades cardiovasculares, renales, auditivas, endocrinas y neuropsiquiátricas. El diagnóstico fue tardío, debido a la falta de sospecha clínica por su presentación variable.

Resumo O neonatologista é frequentemente o primeiro clínico a confrontar-se com condições genéticas não diagnosticadas no período pré-natal. Os avanços tecnológicos no campo da genética nas últimas décadas trouxeram possibilidades nunca antes imaginadas. Distantes estão os tempos em que pouco mais poderia ser oferecido aos doentes do que um cariótipo de sangue periférico. Metodologias mais recentes, como hibridização genómica comparativa ou sequenciação de Sanger e sequenciação de nova geração, permitem analisar mais detalhadamente o genoma humano, quer ao nível dos grandes rearranjos (deleções, duplicações), quer de variantes pontuais potencialmente patogénicas. Estas tecnologias de ponta têm sido úteis na descoberta de genes implicados em doenças há muito entendidas como de origem genética, mas cuja etiologia permanecia desconhecida. Apesar dos bons presságios, nenhum método é autossuficiente e todos apresentam as suas limitações. O objetivo desta revisão é atualizar os clínicos sobre os testes genéticos atualmente disponíveis e utilizados. Recordando que o primeiro genoma humano foi sequenciado há pouco mais de vinte anos, que novidades trarão os próximos vinte?

Abstract The neonatologist is often the first clinician to identify genetic disorders without prenatal diagnosis. Technological advances in genetics over the past few decades have opened up possibilities never before imagined. Gone are the days when we could offer our patients little more than a peripheral blood karyotype. Newer methods, such as comparative genomic hybridization or Sanger sequencing and next-generation sequencing, allow a more detailed analysis of the human genome, both at the level of large rearrangements (deletions, duplications) and potentially pathogenic point variants. High-tech technologies have been useful in uncovering genes involved in diseases that have long been known to have a genetic origin, but whose etiology has remained elusive. Despite the promise of these technologies, no method is self-sufficient, and all have limitations. The aim of this review is to update clinicians on the genetic tests that are currently available and in use. Given that the first human genome was sequenced just over twenty years ago, what news will the next twenty years bring?

Summary Background and aims: Zephyranthes mesochloa, is a bulbous species with white flowers that inhabits the subtropical región of South America and presents different chromosome numbers. The aim of this work is to carry out the chromosome analysis of Z. mesochloa from northern Argentina, to contribute to the cytogenetic knowledge of the genus. M&M: Ploidy levels and somatic chromosome numbers were determined in individuals from 8 populations in northern Argentina using conventional staining. In addition, meiotic preparations with acetic carmine were performed on individuals from one population. Results: Seventy-five percent of the populations were diploid, with 2n = 2x = 12 and presented a karyotypic formula of 4m + 4sm + 4st. In two of the diploid populations, individuals with 2n = 13 were observed, with the presence of an additional metacentric chromosome, possibly a B chromosome. Microsporogenesis analysis, in diakinesis and metaphase I, of aneuploid cytotype (2n = 13), showed six bivalents and one univalent in all pollen mother cells analyzed. The remaining populations (25%) were tetraploids with 2n = 4x = 24 and karyotypic formula 8m + 8sm + 8st. Geographically, the distribution of cytotypes in Z. mesochloa is discontinuous. Conclusions: The duplicate karyotype formula in tetraploids regarding its con-specific diploids may indicate the origin of an autopolyploid cytotype. The available data allows us to consider the group of cytotypes as part of a polyploid complex with a basic number of x = 6.

Resumen Introducción y objetivos: Zephyranthes mesochloa es una especie bulbosa de flores blancas que habita en la región subtropical del sur de Sudamérica y registra distintos números cromosómicos. El objetivo del presente trabajo es analizar cromosómicamente individuos de la especie Z. mesochloa del norte de Argentina, con el objeto de contribuir al conocimiento citogenético del género. M&M: El nivel de ploidía y el número cromosómico somático se determinó en individuos procedentes de 8 poblaciones del norte de Argentina a partir de tinción convencional. Además, se realizaron preparaciones meióticas con carmín acético en individuos de una de las poblaciones. Resultados: El 75% de las poblaciones resultaron diploides, con 2n = 2x = 12 y fórmula cariotípica 4m + 4sm + 4st. En dos de las poblaciones diploides se observaron individuos con 2n = 13, con presencia de un cromosoma metacéntrico adicional, que posiblemente se trate de un cromosoma B. El análisis de la microsporogénesis, en diacinesis y metafase I, del citotipo aneuploide (2n = 13), mostró 6 bivalentes y 1 univalente en todas las células madre del polen analizadas. Las poblaciones restantes (25%), resultaron tetraploides con 2n = 4x = 24 y fórmula cariotípica 8m + 8sm + 8st. Geográficamente, la distribución de los citotipos de Z. mesochloa es discontinua. Conclusiones: La fórmula cariotípica duplicada en los tetraploides con respecto a los diploides conespecíficos indicarían un origen autopoliploide de este citotipo. El conjunto de datos disponibles permite considerar al conjunto de citotipos como un complejo poliploide con número básico x = 6.

Abstract Description of the first case of Jacobsen syndrome in Argentina and its evolution. A one and a half year old patient with congenital pancytopenia, dysmorphia and skin spots was evaluated. Infectious and toxicological causes were ruled out. Fanconi anemia was initially suspected. The diepoxybutane test (DEB) was negative, normal echocardiogram and X-rays. The karyotype revealed a de novo deletion in the 11q23 region, compatible with Jacobsen's syndrome. This syndrome is caused by a deletion of contiguous genes and is characterized by intellectual deficit, prenatal and postnatal growth retardation, characteristic facial features, thrombocytopenia or pancytopenia. In addition, they can present malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system, skeletal and immunological abnormalities. The microarray study was performed specifying the breakpoint in the 11q24.1 region and the size of the deletion of 13,133 Mb.

Resumen Descripción del primer caso de síndrome de Jacobsen en Argentina y su evolución. Se evaluó una paciente de un año y medio con pancitopenia congénita, dismorfias y manchas en la piel. Se descartaron causas infecciosas y toxicológicas. Inicialmente se sospechó de anemia de Fanconi (AF). El test de diepoxibutano (DEB) dio negativo, ecocardiograma y radiografías normales. En el cariotipo se observó una deleción de novo en la región 11q23 compatible con el síndrome de Jacobsen. Este síndrome es causado por una deleción de genes contiguos y se caracteriza por déficit intelectual, retraso del crecimiento pre y postnatal, rasgos faciales característicos, trombocitopenia o pancitopenia. Además pueden presentar malformaciones del corazón, riñón, tracto gastrointestinal, genitales, sistema nervioso central, esqueléticas y anomalías inmunológicas. Se realizó el estudio de micromatriz precisando el punto de ruptura en la región 11q24.1 y el tamaño de la deleción de 13,133 Mb.

Resumen Introducción: La atresia aural congénita es un defecto que se presenta en 1 de cada 10000 a 15000 recién nacidos vivos. Puede presentarse de forma aislada o asociada a un síndrome polimalformativo como es el síndrome de ojo de gato. Caso clínico: Varón nacido a término que presenta malformación anorrectal, microtia bilateral con agenesia de conducto auditivo externo derecho y rasgos dismórficos. El estudio audiológico demuestra hipoacusia de transmisión moderada-severa bilateral. El estudio genético pone de manifiesto la presencia de una trisomía en mosaico del cromosoma 22, alteración genética responsable del síndrome de ojo de gato. Discusión: El síndrome de ojo de gato es una enfermedad rara que asocia coloboma de iris, malformaciones anorrectales y anomalías de oído externo. El diagnóstico de certeza se establece mediante un cariotipo en sangre periférica. Es esencial el abordaje integral del paciente mediante equipos multidisciplinares. El pronóstico suele ser bueno.

Abstract Background and objective: Congenital aural atresia is a congenital defect that occurs in 1 in 10,000 to 15,000 live births. It can occur in isolation or associated with a polymalformative syndrome, including cat eye syndrome. Clinical case: This is a male born at term with anorectal malformation, bilateral microtia with agenesis of the right external auditive conduct and dysmorphic features are observed. The audiological evaluation performed demonstrates the existence of bilateral moderate-severe conductive hearing loss. The genetic study demonstrates the presence of a trisomy of chromosome 22, a genetic alteration responsible for cat eye syndrome. Discussion: Cat eye syndrome is a rare disease which presents with ocular coloboma, anal atresia and ear defects. Definitive diagnosis is based on peripheral blood karyotype. Comprehensive patient approach by a multidisciplinary team is essential, however, prognosis is usually good.

Abstract: Turner syndrome is a genetic disorder that occurs in women with partial or complete absence of an X chromosome. Objective: To describe the clinical, laboratory, and genotypic characteristics of patients with Turner syndrome, treated at three health institutions in Medellin. Patients and Method: A retrospective study was carried out. A total of 97 patients with Turner syndrome (< 18 years) confirmed by karyotype between 2011 and 2018 were included. Patients whose karyotype did not meet the specification of the American College of Medical Genetics were excluded. Data on sociodemographic details, nutritional variables, phenotypic characteristics, and laboratory tests were collected. A descriptive analysis was performed in SPSS software version 20. Results: Median age at diagnosis was 8.5 years (IQR 4-12). The main clinical characteristic was short stature (90%). Additionally, they presented cardiovascular malformations (35%), renal alterations (26%), hearing disorders, mainly hypoacusis (33%), and neuropsychiatric disorders (44%). The most frequent karyotype was 45,X (51%) followed by 45,X/46,XX (14%). The patients with 45,X karyotype had the most classic clinical characteristics. Patients > 5 years old had a higher proportion of weight excess than the general population. Dyslipidemia was found in 62% and hypothyroidism in 22%. 70% of patients > 11 years received pubertal induction; 23% presented spontaneous puberty and 44% of them required hormonal maintenance. 86% received somatropin. Conclusion: The patients with Turner syndrome in our study presented a high frequency of short stature and cardiovascular, renal, hearing, endocrine, and neuropsychiatric comorbidities. The diagnosis was delayed due to the lack of clinical suspicion given its variable presentation.

Resumen: El síndrome de Turner es un trastorno genético que se presenta en mujeres con ausencia parcial o completa de un cromosoma X. Objetivo: Describir las características clínicas, paraclínicas y genotípicas de las pacientes con síndrome de Turner atendidas en tres instituciones de salud de Medellín. Pacientes y Método: Estudio descriptivo retrospectivo. Se incluyeron 97 pacientes con síndrome de Turner (< 18 años) confirmado por cariotipo entre 2011 y 2018. Se excluyeron pacientes cuyo cariotipo no cumplía la especificación del Colegio Americano de Genética Médica. Se recolectaron variables sociodemográficas, nutricionales, características fenotípicas y exámenes de laboratorio. Se realizó un análisis descriptivo en SPSS versión 20. Resultados: La edad al diagnóstico fue de 8,5 años (RIC 4-12). La principal manifestación clínica fue la talla baja (90%). Presentaron malformaciones cardiovasculares (35%), malformaciones renales (26%), trastornos auditivos destacándose la hipoacusia (33%), trastornos neuropsiquiátricos (44%). El cariotipo más frecuente fue 45,X (51%) seguido de 45,X/46,XX (14%). Las pacientes con cariotipo 45,X tuvieron las manifestaciones clínicas más clásicas. Las mayores de 5 años presentaron mayor proporción de exceso de peso. Se encontró dislipidemia en 62% e hipotiroidismo en 22%. El 70% de las pacientes mayores de 11 años recibieron inducción puberal; el 23% presentaron pubertad espontánea y de ellas el 44% requirieron mantenimiento hormonal. El 86% recibieron somatropina. Conclusiones: Las pacientes con síndrome de Turner de nuestro estudio presentaron alta frecuencia de talla baja y comorbilidades cardiovasculares, renales, auditivas, endocrinas y neuropsiquiátricas. El diagnóstico fue tardío, debido a la falta de sospecha clínica por su presentación variable.