RESUMO Objetivo: A síndrome da deleção 3p é uma doença monossômica rara que engloba deleções em todo o braço curto do cromossomo 3. Frequentemente está na região distal (3p25-pter), mas apresenta variações nos pontos de quebra e uma manifestação clínica complexa, cujas cardiopatias congênitas são consideradas raras. Apresentamos aqui o primeiro caso de síndrome do coração esquerdo hipoplásico e características dismórficas menores na síndrome 3p-. Além disso, buscamos estabelecer uma associação gene-fenótipo. Descrição do caso: O diagnóstico foi feito por cariótipo e procedeu-se a uma investigação bibliográfica e análise bioinformática in silico sobre os possíveis genes associados a cardiopatias congênitas ou síndrome do coração esquerdo hipoplásico na síndrome da deleção 3p. Todos os genes analisados que poderiam afetar a formação do coração estão localizados na região 3p25.3, adjacente à região deletada no recém-nascido do nosso caso (3p26). Tendo em conta as limitações técnicas do cariótipo, a força da evidência de cada gene avaliado e a proximidade do locus, é provável que tenha ocorrido uma quebra parcial não identificada no gene CAV3. Comentários: Identificamos uma relação indireta entre o gene CAV3 e a síndrome do coração hipoplásico esquerdo, em razão da sua forte associação com cardiomiopatias e defeitos cardíacos isolados. Além disso, a banda citogenética do nosso caso é uma informação nova para a delimitação de uma região cardíaca crítica na síndrome 3p, discussão que está em andamento desde 1986. Assim, reforçamos a importância da investigação citogenética em pacientes com coração hipoplásico e dismorfias auxiliando no diagnóstico, definição de prognóstico e aconselhamento genético para a família.

ABSTRACT Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome. Furthermore, we aim to establish a gene-phenotype association. Case description: The diagnosis was made by karyotyping, followed by a literature investigation and in silico bioinformatic analysis about the possible candidate genes associated with congenital heart defects or hypoplastic left heart syndrome in 3p- syndrome. All genes analyzed that could affect heart formation are located in the 3p25.3 region, adjacent to the deleted region in the newborn from our case (3p26). Taking into account the technical limitations of the karyotype and the strength of evidence from each gene evaluated and locus proximity, it is likely that an unidentified partial break in the CAV3 gene occurred. Comments: We identified an indirect relation between gene CAV3 and hypoplastic left heart syndrome due to its strong association with cardiomyopathies and isolated cardiac defects. Furthermore, the cytogenetic band from our case is new information for the delimitation of a critical cardiac region on 3p syndrome, a discussion that has been ongoing since 1986. Thus, we reinforce the importance of cytogenetic investigation in patients with hypoplastic hearts and dysmorphia, assisting in diagnosis, definition of prognosis, and genetic counseling for the family.

RESUMO Objetivo: Relatar o caso de uma criança com síndrome de Jacobsen visando fornecer informações fenotípicas sobre esta desordem genética rara. Descrição do caso: Pré-escolar do sexo feminino, com cinco anos de idade, foi diagnosticada com síndrome de Jacobsen por meio do teste do cariótipo. Apresentou uma variedade de anomalias craniofaciais e malformações, incluindo comprometimento cardíaco, caracterizado por um conjunto de malformações no ventrículo esquerdo em consonância com o diagnóstico do complexo de Shone. Comentários: A síndrome de Jacobsen ocorre em razão de uma deleção de genes contíguos no braço longo do cromossomo 11 (11q). As principais características associadas a esta síndrome genética são baixa estatura, atraso do desenvolvimento neuropsicomotor, trigonocefalia e dismorfismo craniofacial, além de alterações hematológicas, malformações cardíacas, entre outras. Dessa forma, a criança está em acompanhamento em um Centro de Anomalias Craniofaciais com uma equipe multiprofissional a fim de acompanhar seu desenvolvimento e tratar as comorbidades associadas.

ABSTRACT Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. Case description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone’s complex. Comments: Jacobsen syndrome occurs due to a deletion of contiguous genes on the long arm of chromosome 11 (11q). The main characteristics associated with this genetic disorder are short stature and delayed neuropsychomotor development, trigonocephaly and craniofacial dysmorphism, hematological alterations, and cardiac malformations, among others. Thus, the child is being monitored at a Craniofacial Anomalies Center with a multi-professional team in order to monitor her development and treat the associated comorbidities.

Abstract Centromochlus heckelii has the lowest diploid chromosome number (2n = 46) and the only described heteromorphic sex chromosome system in Auchenipteridae. This study presents a population of C. heckelii from the Central Amazon basin with subtle variations in the karyotype composition and a variant W chromosome with distinct morphology and increased C-positive heterochromatin content. In this population, the W chromosome is subtelocentric, whereas the only previous study on C. heckelii reported a metacentric W chromosome. Constitutive heterochromatin (CH) and accumulation of microsatellite motifs have significantly contributed to this W chromosome enlargement. Notably, this population exhibits numerous interstitial telomeric sites (ITSs). Some of these ITSs might represent genuine chromosomal fusion points due to the reduced 2n; however, additional mechanisms, such as chromosomal inversions, translocations, transpositions, or association with satellite DNA, are likely responsible for this unusual pattern. The 18S rDNA sites were found in both the Z and W chromosomes of all individuals. However, two individuals exhibited an additional 18S rDNA site in a single homologous of the chromosome pair 20, characterizing an intrapopulation polymorphism. The 5S rDNA sites were found in two chromosome pairs, distinguishing this population from other Centromochlinae species and further supporting it as one of the most efficient cytotaxonomic markers within the subfamily.

ABSTRACT Objective: The objective of this study was to report a case of bilateral ulnar longitudinal deficiency with oligodactyly in a male newborn. Case description: A full-term male newborn, born following an uncomplicated gestation with no abnormalities detected on prenatal ultrasounds, presented upper limb malformations described as shortening of the left forearm and absence of three digits bilaterally upon neonatal physical examination. Diagnostic investigations including X-rays, abdominal ultrasound, head ultrasound, echocardiogram, and karyotype analysis were conducted, facilitating detailed identification of the malformations and exclusion of other anomalies, thereby suggesting the diagnosis of congenital longitudinal deficiency of the ulna. Discharge planning encompassed supportive care and rehabilitation as per the patient’s needs. Comments: Ulnar longitudinal deficiency is a rare congenital upper limb malformation, whose estimated incidence is 1:100,000 newborns. It is believed to be related to the Sonic Hedgehog gene, and the upper limb anomalies vary according to the ulnar involvement. The early diagnosis is not routine, being more common at the first physical examination with the aid of imaging tests. Objective newborn description fullterm full term ultrasounds Xrays, Xrays X rays, rays X-rays ultrasound echocardiogram conducted ulna patients patient s needs Comments malformation 1100,000 1100000 1 100,000 100 000 1:100,00 newborns gene involvement routine tests 1100 1100,00 110000 100000 100,00 10 00 1:100,0 110 1100,0 11000 10000 100,0 0 1:100, 11 1100, 1000 100, 1:100 1:10 1:1 1:

RESUMO Objetivo: Relatar um caso de deficiência longitudinal congênita da ulna com oligodactilia bilateral em recém-nascido do sexo masculino. Descrição do caso: Recém-nascido do sexo masculino nascido a termo, cuja gestação foi normal e sem alterações nas ultrassonografias durante o pré-natal, apresentou malformações em membros superiores, com encurtamento do antebraço esquerdo e ausência de três quirodáctilos bilateralmente durante o exame físico neonatal. Foi realizado um estudo diagnóstico baseado em exames complementares como raio X, ultrassonografia abdominal e transfontanela, ecocardiograma e cariótipo, os quais permitiram a identificação detalhada das malformações e a exclusão de demais anomalias, definindo o diagnóstico de deficiência longitudinal congênita da ulna. As condutas da alta hospitalar foram baseadas na necessidade de suporte e reabilitação para o paciente. Comentários: A deficiência longitudinal congênita da ulna é uma rara malformação de membros superiores, cuja incidência estimada é de 1:100.000 recém-nascidos. Acredita-se que esteja relacionada com o gene Sonic Hedgehog, e as anomalias presentes nos membros superiores variam de acordo com o acometimento ulnar. O diagnóstico precoce não é rotineiro, sendo mais comum ao primeiro exame físico do recém-nascido, com o auxílio de exames de imagem. Objetivo recémnascido recém Recémnascido Recém termo prénatal, prénatal pré natal, natal pré-natal neonatal X transfontanela cariótipo paciente Comentários 1100.000 1100000 1 100.000 100 000 1:100.00 recémnascidos. recémnascidos nascidos. nascidos recém-nascidos Acreditase Acredita se Hedgehog ulnar rotineiro recémnascido, nascido, imagem 1100 1100.00 110000 100000 100.00 10 00 1:100.0 110 1100.0 11000 10000 100.0 0 1:100. 11 1100. 1000 100. 1:100 1:10 1:1 1:

RESUMO Objetivo: O objetivo deste estudo foi realizar a correlação genótipo-fenótipo entre os resultados de cariótipos e as alterações neurológicas e psiquiátricas apresentadas em pacientes com síndrome de Turner (ST). Métodos: Um estudo retrospectivo foi conduzido nos registros médicos de 10/140 pacientes com ST e deficiências neuropsicológicas atendidos pelo Serviço de Genética Clínica de um hospital do sul do Brasil. Ademais, uma revisão foi realizada pelas plataformas científicas PubMed e Biblioteca Virtual em Saúde (BVS) de artigos publicados entre 1o de janeiro de 2012 e 1o de janeiro de 2023. Foram selecionados 14 artigos em uma análise em duas etapas. Resultados: Nossa pesquisa mostrou potencial correlação entre alterações neurológicas e psiquiátricas em pacientes com ST. Esses achados corroboram os descritos por outros autores — como a elevada prevalência de dificuldades de aprendizagem ou intelectuais. Entretanto, nossa amostra encontrou mais episódios convulsivos do que os descritos em outros estudos. Conclusões: A correlação estabelecida pode ser devida ao efeito dose-dependente do cromossomo X, visto que nossa revisão sugere que o número de cromossomos sexuais ou o desenvolvimento hormonal está associado a habilidades ou deficiências verbais, sociais e cognitivas. Objetivo genótipofenótipo genótipo fenótipo . (ST) Métodos 10140 10 140 10/14 Brasil Ademais BVS (BVS 201 2023 1 etapas Resultados intelectuais Entretanto estudos Conclusões dosedependente dose dependente X verbais cognitivas (ST 1014 10/1 20 202 101 10/ 2

ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases. Results: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies. Conclusions: The correlation established could be due to X chromosome dose–effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments. Objective genotypephenotype genotype phenotype . (TS) Methods 10140 10 140 10/14 Brazil addition 1 201 202 databases Results disabilities However studies Conclusions doseeffect dose effect dose–effect verbal social impairments (TS 1014 14 10/1 20 101 10/ 2

RESUMO Objetivo: Resumir as principais descobertas dos RNA não codificantes (ncRNAs) na síndrome de Turner (ST), correlacionando essas biomoléculas com as manifestações clínicas observadas nos pacientes afetados. Fontes de dados: Foram realizadas pesquisas nas bases de dados da Biblioteca Nacional de Medicina dos Estados Unidos (PubMed), Biblioteca Científica Eletrônica Online (SciELO) e ScienceDirect, abrangendo artigos originais em inglês publicados de 2014 a 2023. Os descritores utilizados foram: "lncRNAs e síndrome de Turner", "miRNAs e síndrome de Turner" e "circRNAs e síndrome de Turner". Os estudos incluídos abordaram o papel dos ncRNA nas características clínicas dos pacientes com ST. Os critérios de exclusão compreenderam textos de resumos, relatórios, resenhas e monografias. Síntese dos dados: Identificamos 147 estudos, dos quais sete foram incluídos no estudo. Na análise dos microRNAs, o miR-486-5p e o miR-320a se destacaram, estando associados ao desenvolvimento ovariano; o miR-126-3p e o miR-126-5p foram relacionados a uma maior rigidez aórtica. Com relação aos RNAs, a regulação negativa do XIST indicou disfunções na inativação do cromossomo X. Quanto aos circRNA, circPPP2R3B, circCSF2RA e circPCTN foram associados a funções imunológicas, enquanto circ_0090421, circ_0090392 e circ_0089945 foram vinculados ao desenvolvimento cardíaco. Conclusões: Os dados desses estudos demonstram que essas biomoléculas desempenham papéis cruciais em processos relacionados a características específicas observadas em pacientes com ST. Além de serem sugeridos como biomarcadores potenciais, os quais podem ser úteis na prática clínica. Objetivo ncRNAs (ncRNAs ST, ST , (ST) afetados PubMed, PubMed (PubMed) SciELO (SciELO ScienceDirect 201 2023 lncRNAs Turner, miRNAs circRNAs Turner. . resumos relatórios monografias 14 estudo microRNAs miR4865p miRp miR 486 5p p miR320a miRa 320a destacaram ovariano miR1263p 126 3p miR1265p aórtica RNAs X circRNA circPPP2R3B circPPPRB circPPP R B circCSFRA circCSF RA imunológicas circ0090421 circ 0090421 circ_0090421 circ0090392 0090392 circ_009039 circ0089945 0089945 circ_008994 cardíaco Conclusões potenciais clínica (ST (PubMed 20 202 1 48 12 circ009042 009042 circ_009042 circ009039 009039 circ_00903 circ008994 008994 circ_00899 2 4 circ00904 00904 circ_00904 circ00903 00903 circ_0090 circ00899 00899 circ_0089 circ0090 0090 circ_009 circ0089 0089 circ_008 circ009 009 circ_00 circ008 008 circ00 00 circ_0 circ0 0 circ_

ABSTRACT Objective: The aim of this study was to summarize the main findings of non-coding RNA (ncRNAs) in Turner syndrome (TS), correlating these biomolecules with the clinical manifestations in affected patients. Data source: Searches were conducted in the databases of the United States National Library of Medicine (PubMed), Scientific Electronic Library Online (SciELO), and ScienceDirect, covering original English articles published from 2014 to 2023. Descriptors used included "lncRNAs and Turner Syndrome," "miRNAs and Turner Syndrome," and "circRNAs and Turner Syndrome." The studies that were included addressed the role of ncRNAs in the clinical characteristics of patients with TS. Exclusion criteria comprised texts in abstracts, reports, reviews, and monographs. Data synthesis: We identified 147 studies, of which seven were included. In the analysis of microRNAs, miR-486-5p and miR-320a stood out, being associated with ovarian development; miR-126-3p and miR-126-5p were related to greater aortic stiffness. Regarding long non-coding RNAs, the downregulation of XIST indicated dysfunctions in X chromosome inactivation. Concerning circular RNAs, circPPP2R3B, circCSF2RA, and circPCTN were related to immunological functions, while circ_0090421, circ_0090392, and circ_0089945 were linked to cardiac development. Conclusions: The data from these studies demonstrate that these biomolecules play crucial roles in processes related to specific characteristics observed in TS patients. Besides being suggested as potential biomarkers, they may be useful in clinical practice. Objective noncoding non coding (ncRNAs TS, , (TS) source PubMed, PubMed (PubMed) SciELO, SciELO (SciELO) ScienceDirect 201 2023 lncRNAs Syndrome, Syndrome miRNAs circRNAs Syndrome. abstracts reports reviews monographs synthesis 14 microRNAs miR4865p miRp miR 486 5p p miR320a miRa 320a a out development miR1263p 126 3p miR1265p stiffness RNAs inactivation circPPP2R3B circPPPRB circPPP R B circCSF2RA circCSFRA circCSF RA functions circ0090421 circ 0090421 circ_0090421 circ0090392 0090392 circ_0090392 circ0089945 0089945 circ_008994 Conclusions biomarkers practice (TS (PubMed (SciELO 20 202 1 48 12 circ009042 009042 circ_009042 circ009039 009039 circ_009039 circ008994 008994 circ_00899 2 4 circ00904 00904 circ_00904 circ00903 00903 circ_00903 circ00899 00899 circ_0089 circ0090 0090 circ_0090 circ0089 0089 circ_008 circ009 009 circ_009 circ008 008 circ_00 circ00 00 circ_0 circ0 0 circ_

Abstract Introduction: Borreria spinosa is a herbaceous plant considered a weed in agricultural crops, although it also has potential in apiculture. Despite its agronomic importance, its cytogenetic and palynological traits are poorly known. Objective: To do the cytogenetic characterization of B. spinosa, describe the morphology of its pollen grains, and estimate their potential viability. Methods: We collected plant material in Santiago del Estero, Argentina, in May 2017 and used classical methods (8-hydroxyquinoline and Farmer for mitosis and meiosis; viability with Müntzing; pollen morphology with nonacetolysed and acetolysed techniques, and SEM). Results: B. spinosa has a chromosome number of 2n = 56, with a karyotype of 46 m + 10 sm. Meiotic abnormalities mainly include chromosomes outside the equatorial plate, lagging chromosomes, and cytomixis. Pollen grains are small to medium-sized, suboblate to oblate-spheroidal, with a viability of 70%. This is a tetraploid species, most chromosomes are metacentric or submetacentric; and it has irregular meiotic behavior and cytomixis, with concomitant low viability in pollen grains. Conclusion: In B. spinose, pollen grains have similar characteristics to other species of the genus Borreria.

Resumen Introducción: Borreria spinosa es una planta herbácea considerada maleza en cultivos agrícolas, aunque también presenta potencial en la producción apícola. A pesar de su importancia agronómica, sus rasgos citogenéticos y palinológicos son poco conocidos. Objetivo: Caracterizar citogenéticamente a B. spinosa, describir la morfología de sus granos de polen, y estimar su viabilidad potencial. Métodos: Recolectamos material vegetal en Santiago del Estero, Argentina, en mayo de 2017 y utilizamos métodos clásicos (8-hidroxiquinolina y Farmer para mitosis y meiosis; viabilidad con Müntzing; morfología del polen con técnicas no acetolizadas y acetolizadas, y MEB). Resultados: B. spinosa tiene un número cromosómico de 2n = 56, con un cariotipo de 46 m + 10 sm. Las anomalías meióticas incluyen principalmente cromosomas fuera de la placa ecuatorial, cromosomas rezagados y citomixis. Los granos de polen son de pequeños a medianos, suboblatos a oblato-esferoidales, con viabilidad del 70%. Es tetraploide, la mayoría de los cromosomas son metacéntricos o submetacéntricos; y tiene comportamiento meiótico irregular y citomixis, con baja viabilidad concomitante del polen. Conclusión: En B. spinosa, los granos de polen tienen características similares a otras especies del género Borreria.

Abstract Objective It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment. Methods The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up. Results A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia. Conclusions Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing. assignment 13 service followup. followup follow up. up follow-up included 7 5 females However gonads, gonads gonad s , gonad(s) ultrasound genitalia 46 58 (5 % 1 12 (1 orientation Hyperplasia gonad(s 4 (

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.

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 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 Antecedentes: Las alteraciones cromosómicas están presentes en 50 a 60 % de los abortos espontáneos y en 6 a 19 % de los mortinatos. Aunque se prefieren los microarreglos para estudiarlos, numerosos hospitales no pueden ofrecerlos. Objetivo: Presentar los resultados del estudio citogenético de 303 productos de la concepción (POC), 184 se obtuvieron de abortos espontáneos, 49 fueron mortinatos y en 17 no se identificó la de edad gestacional. Material y métodos: Se empleó cariotipo, hibridación in situ con fluorescencia, secuencias cortas repetidas en tándem y microarreglos, según el tipo de pérdida y la muestra disponible. Resultados: En 29 POC se encontró tejido materno, por lo que fueron eliminados de los análisis. En 250 (91.2 %)/274 casos se obtuvieron resultados informativos; la tasa de éxito del cariotipo fue de 80.7 %; la de los microarreglos de SNP, de 94.5 %; y la de la hibridación fluorescente in situ y la repetición corta en tándem, de 100 %. Se observaron anomalías citogenéticas en 57.6 % de los abortos espontáneos y en 24.5 % de los mortinatos; 94 % de las anomalías fueron numéricas y 6 %, submicroscópicas. Conclusiones: El cariotipo en conjunto con el estudio de secuencias cortas repetidas en tándem para descartar contaminación de células maternas es efectivo para estudiar abortos espontáneos; los microarreglos se recomiendan en los mortinatos.

Abstract Background: Chromosomal abnormalities are present in 50 to 60 % of miscarriages and in 6 to 19 % of stillbirths. Although microarrays are preferred for studying chromosomal abnormalities, many hospitals cannot offer this methodology. Objective: To present the results of the cytogenetic analysis of 303 products of conception (POC), which included 184 miscarriages, 49 stillbirths and 17 cases of undefined age. Material and methods: Karyotyping, fluorescence in situ hybridization, short tandem repeats and microarrays were used, depending on the type of loss and available sample. Results: In 29 POCs we found maternal tissue and were eliminated from the analyses. Informative results were obtained in 250 (91.2 %)/274 cases; the karyotyping success rate was 80.7 %; that of single nucleotide polymorphism microarrays, 94.5 %; and that of fluorescence in situ hybridization and short tandem repeat, 100 %. Cytogenetic abnormalities were observed in 57.6 % of miscarriages and in 24.5 % of stillbirths; 94 % of total anomalies were numerical and 6 % were submicroscopic. Conclusions: Karyotyping with simultaneous short tandem repeat study to rule out contamination of maternal cells is effective for studying miscarriages; in stillbirths, microarrays are recommended.

ABSTRACT Objective: To describe the newborn population with Patau (T13) and Edwards Syndrome (T18) with congenital heart diseases that stayed in the Intensive Care Unit (ICU) of a quaternary care hospital complex, regarding surgical and non-surgical medical procedures, palliative care, and outcomes. Methods: Descriptive case series conducted from January/2014 to December/2018 through analysis of records of patients with positive karyotype for T13 or T18 who stayed in the ICU of a quaternary hospital. Descriptive statistics analysis was applied. Results: 33 records of eligible patients were identified: 27 with T18 (82%), and 6 T13 (18%); 64% female and 36% male. Eight were preterm infants with gestational age between 30–36 weeks (24%), and only 4 among the 33 infants had a birth weight >2500 g (12%). Four patients underwent heart surgery and one of them died. Intrahospital mortality was 83% for T13, and 59% for T18. The majority had other malformations and underwent other surgical procedures. Palliative care was offered to 54% of the patients. The median hospitalization time for T18 and T13 was 29 days (range: 2–304) and 25 days (13–58), respectively. Conclusions: Patients with T13 and T18 have high morbidity and mortality, and long hospital and ICU stays. Multicentric studies are needed to allow the analysis of important aspects for creating protocols that, seeking therapeutic proportionality, may bring better quality of life for patients and their families.

RESUMO Objetivo: Descrever a população de recém-nascidos com síndrome de Patau (T13) e Edwards (T18) portadores de cardiopatias congênitas, que permaneceram em Unidades de Terapia Intensiva (UTI) de um complexo hospitalar quaternário, com relação a conduta cirúrgica ou não, cuidados paliativos e seus desfechos. Métodos: Série de casos de pacientes internados entre janeiro de 2014 a dezembro de 2018, com análise dos prontuários de portadores de T13 ou T18 que permaneceram internados em UTI que recebem neonatos nesse hospital quaternário. Utilizou-se análise estatística descritiva. Resultados: Foram identificados 33 prontuários para análise — 27 T18 (81,8%) e seis T13 (18,2%); 64% do sexo feminino e 36% do sexo masculino. Oito foram prematuros, nascidos com 30 a 36 semanas (24,2%), e apenas quatro nasceram com mais de 2500 g (12,1%). Quatro pacientes foram submetidos a cirurgia cardíaca e um deles foi a óbito. A mortalidade intra-hospitalar foi de 83% para T13 e 59% para T18. A maioria apresentava outras malformações e foi submetida a outras cirurgias. Cuidados paliativos foram oferecidos a 54% dos pacientes. A mediana do tempo de hospitalização para T18 e T13 foi respectivamente de 29 dias (variação: 2–304) e 25 dias (13–58). Conclusões: Pacientes com T13 e T18 cursam com alta morbimortalidade e longa permanência hospitalar em UTI. São necessários estudos multicêntricos para melhor análise de aspectos importantes para a criação de protocolos que, buscando proporcionalidade terapêutica, tragam melhor qualidade de vida para os pacientes e suas famílias.

Abstract In Brazil, lima bean is mainly grown in the Northeast region, where it is widely consumed and is of major economic importance. We evaluated different Phaseolus lunatus accessions from the Northeast of Brazil using agromorphological markers and CMA/DAPI fluorochrome banding techniques. All the accessions showed CMA+ blocks of pericentromeric constitutive heterochromatin (CH). At least one pair of CMA++ terminal marks corresponds to the nucleolus organizer region (NORs). Characterization of the seeds suggests that the two Andean and Mesoamerican Phaseolus cultigroups are represented in the Brazilian germplasm analyzed. Most of them belong to the "Big Lima" group. Characterization studies of lima bean germplasm are important for increasing knowledge of the diversity and variability of the species and for generating useful information for breeding and conservation of this economically important legume. importance CMADAPI CMA DAPI techniques CH. CH . (CH) NORs. NORs (NORs) analyzed Big Lima group legume (CH (NORs

Abstract Pulmonary mesenchymal stem cells (PMSCs) are considered important in therapeutic and regenerative responses to lung injury. Despite extensive studies on the human, porcine, sheep, mouse and rat, it was found that PMSCs, which can been performed on goose, have not been well explored. Elucidation of cell differentiation, proliferation, which have not yet been well described, may promote the development of injured lung therapy. In our study, we firstly disclosed biological characteristics of spindle-shaped PMSCs from pulmonary tissues of goose embryos. Growth kinetics and counting kit-8 (CCK8) assay were employed for proliferative activity evaluation. When appropriately induced, PMSCs could differentiate into osteoblasts, adipocytes, chondrocytes, type II alveolar epithelial cells (ATII), which demonstrated that PMSCs have cross-embryonic layer differentiation potential. Besides, undifferentiated PMSCs consistently expressed MSCs associated phenotypes, such as CD166, CD90, CD44, CD29, CD71 and CD105, as identified by immunohistochemistry and RT-PCR. Karyotype analysis demonstrated that PMSCs possessed stable diploid karyotype. Collectively, we successfully established applicable methods for isolation, culture, identification and characterization of goose PMSCs which suggested a potential therapeutic use in regenerative therapy. (PMSCs injury human porcine sheep rat explored proliferation described therapy study spindleshaped spindle shaped embryos kit8 kit 8 kit- CCK8 CCK (CCK8 evaluation induced osteoblasts adipocytes chondrocytes ATII, ATII , (ATII) crossembryonic cross embryonic Besides phenotypes CD166 CD CD90 CD44 CD29 CD7 CD105 RTPCR. RTPCR RT PCR. PCR RT-PCR karyotype Collectively isolation culture (CCK (ATII CD16 CD9 CD4 CD2 CD10 CD1

Abstract Cytogenetic techniques have been improving over the last decades, providing useful information for the systematics and evolution of several groups, such as social insects. On the other hand, karyotypic data are still incipient for most wasp genera. For instance, only 21 out of the 242 species of Polistes were karyotyped, generally with data restricted to number and morphology. Therefore, this study aimed to revisit the karyotype structure of Polistes canadensis, providing unpublished information based on traditional cytogenetic methods (karyotyping, C-banding and base-specific fluorochrome staining). Males and females of P. canadensis were characterized by haploid and diploid numbers of n=28 and 2n=56, respectively. The karyotype formula was established in 2K=18M+22SM+16A with a predominance of pericentromeric heterochromatin and terminal GC+ sites in 16 chromosome pairs. These data suggest that fissions and inversions may be involved in the group karyoevolution. It should be pointed out that our results differ significantly from the first cytogenetic report in this species, which may be related to the outdated method of obtaining mitotic chromosomes or misidentification. As a matter of fact, the improved cytogenetic methods from the present study provided reliable information about the karyotype of P. canadensis that can be used in further comparative cytotaxonomic and evolutionary analyses of social wasps. decades groups insects hand genera instance 2 24 karyotyped morphology Therefore karyotyping, karyotyping (karyotyping Cbanding C banding basespecific base specific staining. staining . staining) P n28 n 28 n=2 2n56 2n 56 2n=56 respectively 2K18M22SM16A KMSMA 2K 18M 22SM 16A K M SM A GC 1 pairs karyoevolution misidentification fact wasps n2 n= 2n5 5 2n=5 2n=