Prevalence of karyotype alterations in couples with recurrent pregnancy loss in a tertiary center in Brazil.

Objective: To assess the prevalence and type of chromosomal abnormalities in Brazilian couples with recurrent pregnancy loss (RPL) and compare the clinical characteristics of couples with and without chromosome abnormalities. Methods: We assessed the medical records of 127 couples with a history of two or more miscarriages, referred to a tertiary academic hospital in Belo Horizonte, Brazil, from January 2014 to May 2023. Karyotype was generated from peripheral blood lymphocyte cultures, and cytogenetic analysis was performed according to standard protocols by heat-denatured Giemsa (RHG) banding. Results: Abnormal karyotypes were detected in 10 couples (7.8%). The prevalence of chromosomal abnormalities was higher among females (6.3%) compared to males (2.0%), but this difference was not statistically significant (p=0.192). The mean number of miscarriages was. 3.3 ± 1.1 in couples with chromosome abnormalities and 3.1 ± 1.5 in couples without chromosome abnormalities (p=0.681). Numerical chromosomal anomalies (6 cases) were more frequent than structural anomalies. Four women presented low-grade Turner mosaicism. No differences were found between couples with and without karyotype alterations, except for maternal age, which was higher in the group with chromosome alterations. Conclusion: The prevalence of parental chromosomal alterations in our study was higher than in most series described in the literature and was associated with increased maternal age. These findings suggest that karyotyping should be part of the investigation for Brazilian couples with RPL, as identifying the genetic etiology may have implications for subsequent pregnancies.

Malformaciones congénitas en óbitos fetales / Congenital malformations in fetal stillbirth

INTRODUCCIÓN. Las malformaciones congénitas son defectos estructurales o funcionales producidos en el desarrollo embrionario o fetal, de diversa etiología, algunas son prevenibles por lo que el diagnóstico prenatal es indispensable para determinar pronóstico y futuro obstétrico. OBJETIVO. Describir las malformaciones congénitas prevalentes en óbitos fetales y destacar la importancia de completar el diagnóstico prenatal. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo y retrospectivo. De una población de 276 Historias Clínicas con diagnóstico de pérdidas fetales espontáneas, se tomó muestra de 41 con malformaciones congénitas del Centro Obstétrico, en el Hospital de Especialidades Carlos Andrade Marín, de enero 2017 a diciembre 2018. Criterios de inclusión: diagnóstico óbitos con malformaciones congénitas menores de 34 semanas de gestación identificadas por estudio ecográfico, cromosómico y de necropsia. Criterios de exclusión: óbitos con estudio de necropsia normal. Los datos se obtuvieron del sistema MIS-AS400. El análisis se realizó con el programa Microsoft Excel. RESULTADOS. Se encontró prevalencia de malformaciones congénitas en óbitos fetales del 14,85% (41; 276), el hidrops representó el 41,46% (17; 41), de estos en el 53% (9; 17) se hallaron malformaciones mayores y en el 47% (8; 17) otras malformaciones asociadas. Se encontraron 17 cariotipos, 76,47% (13; 17) fueron anormales y 23,52% (4; 17) normales. DISCUSIÓN. Las comorbilidades maternas y antecedentes familiares, fueron factores relevantes para la aparición de malformaciones congénitas cuya prevalencia aún se debe investigar en el Ecuador. CONCLUSIÓN. Se describieron malformaciones congénitas prevalentes y la importancia de realizar el control prenatal con estudios complementarios para precisar el diagnóstico y determinar el futuro obstétrico.

INTRODUCTION. Congenital malformations are structural or functional defects produced in embryonic or fetal development, of diverse etiology, some are preventable, so prenatal diagnosis is essential to determine prognosis and obstetric future. OBJECTIVE. Describe the prevalent congenital malformations in stillbirths and highlight the importance of completing the prenatal diagnosis. MATERIALS AND METHODS. Observational, descriptive and retrospective study. From a population of 276 Clinical Histories with a diagnosis of spontaneous fetal losses, a sample of 41 with congenital malformations was taken from the Obstetric Center, at the Carlos Andrade Marín Specialty Hospital, from January 2017 to December 2018. Inclusion criteria: diagnosis of deaths with malformations congenital less than 34 weeks of gestation identified by ultrasound, chromosomal and necropsy study. Exclusion criteria: deaths with normal autopsy study. The data were obtained from the MIS AS400 system. The analysis was carried out with the Microsoft Excel program. RESULTS. The prevalence of congenital malformations in stillbirths was 14,85% (41; 276), hydrops represented 41,46% (17; 41), of these, 53% (9; 17) found major malformations and in 47% (8; 17) other associated malformations. 17 karyotypes were found, 76,47% (13; 17) were abnormal and 23,52% (4; 17) were normal. DISCUSSION. Maternal comorbidities and family history were relevant factors for the appearance of congenital malformations whose prevalence has yet to be investigated in Ecuador. CONCLUSION. Prevalent congenital malformations and the importance of carrying out prenatal control with complementary studies to clarify the diagnosis and determine the obstetric future were described.

Disorders of sex development: Genetic characterization of a patient cohort.

Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex. In other words, there is an ambiguous or intermediate condition between the male and female phenotypes of the anatomical sex. These atypical conditions are manifested in several ways, ranging from genital ambiguity to phenotypes that are so attenuated that they can go unnoticed or appear normal. Currently, there is a lack of understanding of the factors responsible for these outcomes; however, they are likely to be conditioned by genetic, hormonal and environmental factors during prenatal and postnatal development. The present study determined the genetic etiology of DSDs in Colombian patients by conventional cytogenetic analysis, FISH and MLPA (for SF1, DAX1, SOX9, SRY and WNT4). A cohort of 43 patients with clinical phenotypes of sex development disorder was used in the present study. Using this multistep experimental approach, a diagnostic percentage of 25.58% was obtained: 17 patients (39.53%) were classified as having gonadal development disorders, the majority of which were ovotesticular disorders with numerical and/or structural alterations of the sex chromosomes, 9 patients (20.93%) were classified as having testicular DSD with a 46,XY karyotype, and 3 patients (6.98%) as having ovarian DSD with a 46,XX karyotype. The remaining 14 patients (32.56%) were classified as 'other' since they could not be grouped into a specific class of gonadal development, corresponding to hypospadias and multiple congenital anomalies. These findings highlight the importance of histological and cytogenetic studies in a gonadal biopsy. In 11/43 cases, the multistep experimental protocol presented in the present study yielded etiological or histological findings that could be used to define the medical management of patients with DSDs. In conclusion, for the etiological diagnosis of DSDs, a broad­spectrum approach that includes endocrinological tests, conventional karyotyping, molecular karyotyping by FISH and, molecular tests is required, in addition to gonadal tissue analyses, to identify genetic alterations.

Investigation of chromosomal alterations in patients with Alzheimer's disease in the state of Amazonas, Brazil / Investigação de alterações cromossômicas em pacientes com doença de Alzheimer no estado do Amazonas, Brasil

ABSTRACT Alzheimer's disease (AD) has as its main characteristic the deterioration of cerebral functions. Its etiology is still complex and undefined despite the progress made in understanding its neurological, infectious, biochemical, genetic and cytogenetic mechanisms. Considering this, the aim of this study was to investigate the presence of chromosomal alterations in the peripheral blood lymphocytes, and to verify if there was a high frequency of these alterations in patients diagnosed with AD at the University Hospital GetúLio Vargas Outpatient Clinic Araújo Lima in Manaus, Amazonas, Brazil. Among the nine patients in the AD group, only one patient did not have metaphases with chromosomal alterations (2n = 46,XX), while eight patients with AD showed numerical chromosomal alterations, classified as X chromosome aneupLoidy (2n = 45,X) and double aneupLoidy (2n = 44,X,-X,-10; 2n = 44,X,-X,-13 and 2n = 44,X,-X,-21). In the control group, no chromosomal changes were found in the karyotypes of these individuals. Therefore, the karyotypes of patients with AD undergo chromosomal alterations at different levels. These findings are being described for the first time in the population of Amazonas, and they highlight the importance of the inclusion of cytogenetic investigations in the routine management of patients with AD.

RESUMO Doença de Alzheimer (DA) tem como principal característica a deterioração das funções cerebrais. Quanto a sua etiologia ainda é complexa e indefinida, apesar do progresso alcançado na compreensão de seus mecanismos neurológicos, infecciosos, bioquímicos, genéticos e citogenéticos. Considerando isto, nós investigamos a presença de alterações cromossômicas nos Linfócitos de sangue periférico e verificamos se há uma alta frequência dessas alterações em pacientes já diagnosticados com doença de Alzheimer no Hospital Universitário Getulio Vargas / Ambulatório Araújo Lima, Manaus / Amazonas / Brasil. Assim, dos 09 pacientes do grupo DA, somente 01 paciente não apresentou metáfases com alterações cromossômicas (2n = 46,XX) enquanto que 08 pacientes com DA apresentaram alterações cromossômicas numéricas, sendo classificadas como aneupLoidia do cromossomo X (2n = 45,X) e aneupLoidia dupLa (2n = 44,X,-X,-10; 2n = 44,X,-X,-13 e 2n = 44,X,-X,-21). No grupo controle, não foram encontradas aLterações cromossômicas nos cariótipos desses indivíduos. Estes achados para a popuLação do Amazonas/ BrasiL estão sendo descritos pela primeira vez. Os cariótipos de pacientes com DA sofrem aLterações cromossômicas em diferentes níveis e demonstraram a importância das investigações citogenéticas no manejo rotineiro de pacientes com DA.

Investigation of chromosomal alterations in patients with Alzheimer's disease in the state of Amazonas, Brazil.

OBJECTIVES: Alzheimer's disease (AD) has as its main characteristic the deterioration of cerebral functions. Its etiology is still complex and undefined despite the progress made in understanding its neurological, infectious, biochemical, genetic and cytogenetic mechanisms. METHODS: Considering this, the aim of this study was to investigate the presence of chromosomal alterations in the peripheral blood lymphocytes, and to verify if there was a high frequency of these alterations in patients diagnosed with AD at the University Hospital GetúLio Vargas Outpatient Clinic Araújo Lima in Manaus, Amazonas, Brazil. RESULTS: Among the nine patients in the AD group, only one patient did not have metaphases with chromosomal alterations (2n = 46,XX), while eight patients with AD showed numerical chromosomal alterations, classified as X chromosome aneupLoidy (2n = 45,X) and double aneupLoidy (2n = 44,X,-X,-10; 2n = 44,X,-X,-13 and 2n = 44,X,-X,-21). CONCLUSION: In the control group, no chromosomal changes were found in the karyotypes of these individuals. Therefore, the karyotypes of patients with AD undergo chromosomal alterations at different levels. These findings are being described for the first time in the population of Amazonas, and they highlight the importance of the inclusion of cytogenetic investigations in the routine management of patients with AD.

Síndrome de Klinefelter: a propósito de un caso / Klinefelter syndrome. About a case

Introducción: el síndrome de Klinefelter es una forma de hipogonadismo masculino, caracterizado por la presencia de un cromosoma X extra, testículos pequeños, disgenesia de los túbulos seminíferos, niveles elevados degonadotropina, bajo nivel sérico de testosterona, caracteres sexuales secundarios subdesarrollados e infertilidad masculina. Caso clínico: se presentó un paciente blanco, masculino, de 17 años de edad sin dismorfia facial, aspecto eunocoide, hipogenitalismo ligero, anomalías esqueléticas y retraso mental leve. Para el diagnóstico de esta afección se aplicó el método clínico a través de la técnica comparativa o de patrón. Se realizó estudio cromosómico en sangre periférica, que confirmó el diagnóstico del síndrome en el cariotipo 47, XXY. Conclusiones: resulta de gran importancia tener en cuenta las manifestaciones clínicas antes mencionadas para establecer el diagnóstico precoz de este síndrome, ofrecer asesoramiento genético oportuno a los padres, así como rehabilitar física, psíquica y socialmente a estos pacientes(AU)

Introduction: Klinefelter syndrome is a form of male hypogonadism, characterized by the presence of an extra X chromosome, small testes, dysgenesis of seminiferous tubules, high levels of gonadotropin, low serum testosterone level, underdeveloped secondary sexual characters and male infertility. Clinical case: a white male patient, 17 years of age without facial dysmorphism, eunocoid appearance, slight hypogenitalism, skeletal anomalies and mild mental retardation. For the diagnosis of this condition, the clinical method was applied through the comparative or pattern technique. Chromosomal study was performed in peripheral blood, confirming the diagnosis of syndrome at karyotype 47, XXY. Conclusions: it is of great importance to take into account the aforementioned clinical manifestations in order to establish early diagnosis of this syndrome, offer timely genetic counseling to parents, and rehabilitate these patients physically, psychically and socially(EU)

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.

We report a boy carrying a recombinant chromosome 18, with terminal deletion of 10.8 Mb from 18p11.32 to 18p11.21 and a terminal duplication of 22.8 Mb from 18q21.31 to 18q23, resulting from a maternal pericentric inversion of the chromosome 18. He presented with poor growth, developmental delay, facial dysmorphisms, surgically repaired left cleft lip and palate, a mild form of holoprosencephaly characterized by single central incisor and agenesis of the septum pellucidum, and body asymmetry. Based on the systematic review of the literature, we discuss genotype-phenotype correlation and the risk for the recombinants of pericentric inversions of chromosome 18. © 2016 Wiley Periodicals, Inc.

Aneuplodia de cromossomos sexuais em gato de pelagem tortoiseshell - relato de caso / Aneuploidy of sex chromosomes in a tortoiseshell cat - case report / Aneuploidía de cromosomas sexuales en un gato de pelaje tortoiseshell - reporte de un caso

A análise citogenética é uma importante etapa no diagnóstico de animais com histórico de esterilidade ou infertilidade. Durante anos, os estudos cromossômicos foram indicados para as espécies de produção. Atualmente, a procura por tais análises em animais de companhia tem aumentado. Em gatos, a coloração da pelagem tortoiseshell apresenta predominância de pêlos pretos mesclados com pêlos brancos e laranja pelo corpo todo, e, na coloração denominada calico, essas três cores se apresentam como manchas independentes, com predominância da cor branca. Porém, todos esses padrões são restritos a fêmeas. É raro observar gatos machos tortoiseshell ou calico, fruto da ocorrência de aberrações cromossômicas. Relata-se, neste caso, a análise cromossômica de um gato tortoiseshell com conjunto cromossômico diploide de 2n = 39,XXY, ou seja, um cromossomo X extra, semelhante ao que ocorre na síndrome de Klinefelter, em humanos.

Cytogenetic analysis is an important step in the diagnosis of animals with a history of infertility or sterility. While chromosomal studies have been indicated for livestock species for years, the demand for such analyzes in companion animals has recently increased. The coat color in cats known as tortoiseshell presents predominance of black hair mixed with white and orange hair all over the body and, in the color pattern known as calico, these three colors are presented as independent spots with predominance of white hair. However, all of these patterns are limited to females due to sex-linked inheritance. Male tortoiseshell or calico cats occur rarely, due to the occurrence of chromosomal aberrations. This article reports the chromosomal analysis of a male cat with tortoiseshell pelage that presented an extra X chromosome (diploid chromosome set of 2n = 39,XXY), a condition which is similar to Klinefelter syndrome in humans.

El examen citogenético representa una importante etapa en el diagnóstico de animales con antecedentes de esterilidad o infertilidad. Durante muchos años, los estudios cromosómicos sólo eran indicados para las especies utilizadas en producción animal. Actualmente, la búsqueda de dichos análisis en perros y gatos se ha incrementado. En los gatos, la coloración del pelaje tortoiseshell puede tener una predominancia de pelos negros mezclados con pelos blancos y anaranjados distribuidos en todo el cuerpo, o bien presentarse una coloración denominada calicó, en la que esos tres colores se muestran como manchas independientes, con predominancia del color blanco. Este tipo de pelaje ocurre en hembras, y en raras ocasiones puede ser observado en gatos machos, debido a la presencia de aberraciones cromosómicas. En este trabajo se relata un caso donde se realizó el análisis cromosómico de un gato tortoiseshell, que tenía un conjunto cromosómico diploide de 2n = 39,XXY, es decir un cromosoma X de más, similar a lo que ocurre en el síndrome de Klinefelter en seres humanos.

Aneuplodia de cromossomos sexuais em gato de pelagem tortoiseshell - relato de caso / Aneuploidy of sex chromosomes in a tortoiseshell cat - case report / Aneuploidía de cromosomas sexuales en un gato de pelaje tortoiseshell - reporte de un caso

A análise citogenética é uma importante etapa no diagnóstico de animais com histórico de esterilidade ou infertilidade. Durante anos, os estudos cromossômicos foram indicados para as espécies de produção. Atualmente, a procura por tais análises em animais de companhia tem aumentado. Em gatos, a coloração da pelagem tortoiseshell apresenta predominância de pêlos pretos mesclados com pêlos brancos e laranja pelo corpo todo, e, na coloração denominada calico, essas três cores se apresentam como manchas independentes, com predominância da cor branca. Porém, todos esses padrões são restritos a fêmeas. É raro observar gatos machos tortoiseshell ou calico, fruto da ocorrência de aberrações cromossômicas. Relata-se, neste caso, a análise cromossômica de um gato tortoiseshell com conjunto cromossômico diploide de 2n = 39,XXY, ou seja, um cromossomo X extra, semelhante ao que ocorre na síndrome de Klinefelter, em humanos.(AU)

Cytogenetic analysis is an important step in the diagnosis of animals with a history of infertility or sterility. While chromosomal studies have been indicated for livestock species for years, the demand for such analyzes in companion animals has recently increased. The coat color in cats known as tortoiseshell presents predominance of black hair mixed with white and orange hair all over the body and, in the color pattern known as calico, these three colors are presented as independent spots with predominance of white hair. However, all of these patterns are limited to females due to sex-linked inheritance. Male tortoiseshell or calico cats occur rarely, due to the occurrence of chromosomal aberrations. This article reports the chromosomal analysis of a male cat with tortoiseshell pelage that presented an extra X chromosome (diploid chromosome set of 2n = 39,XXY), a condition which is similar to Klinefelter syndrome in humans.(AU)

El examen citogenético representa una importante etapa en el diagnóstico de animales con antecedentes de esterilidad o infertilidad. Durante muchos años, los estudios cromosómicos sólo eran indicados para las especies utilizadas en producción animal. Actualmente, la búsqueda de dichos análisis en perros y gatos se ha incrementado. En los gatos, la coloración del pelaje tortoiseshell puede tener una predominancia de pelos negros mezclados con pelos blancos y anaranjados distribuidos en todo el cuerpo, o bien presentarse una coloración denominada calicó, en la que esos tres colores se muestran como manchas independientes, con predominancia del color blanco. Este tipo de pelaje ocurre en hembras, y en raras ocasiones puede ser observado en gatos machos, debido a la presencia de aberraciones cromosómicas. En este trabajo se relata un caso donde se realizó el análisis cromosómico de un gato tortoiseshell, que tenía un conjunto cromosómico diploide de 2n = 39,XXY, es decir un cromosoma X de más, similar a lo que ocurre en el síndrome de Klinefelter en seres humanos.(AU)

De novo interstitial deletion in the long arm of chromosome 11: a case report.

The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q13.4q21, as confirmed by array comparative genomic hybridization. Dysmorphic features such as coarse facial features, congenital laryngomalacia, oblique inguinal hernia, high-arched palate, and camptodactyly were observed in the subject. The present case broadens the spectrum of clinical findings observed in individuals with 11q interstitial deletion.

Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases.

The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultures of 2500 second-trimester amniotic fluid samples. The most common indication for genetic AS was abnormal maternal serum-screening test (69.56%), followed by advanced maternal age (15.04%). Chromosomal abnormality was detected in 206 (8.24%) of the 2500 samples. The detection rate of abnormal karyotypes was 62.5% in the group in which one member of the couple was a carrier of a chromosome abnormality; in the group having a positive result from noninvasive prenatal testing, the frequency was 50%. To determine the origin of fetal chromosome abnormal karyotype, 45 fetuses were analyzed. Of these, 20 were found to be de novo abnormalities and 25 were familial. The frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.

Result and pedigree analysis of spontaneously abortion villus chromosome detecting by FISH.

The aim of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and to provide a basis for clinical diagnosis and therapy in Northeast China. A total of 144 spontaneously aborted fetuses were analyzed by FISH to test for chromosome number and to recall couples for peripheral blood karyotype analysis. The rate of abnormal chorionic villus chromosomes was 35.42%. Villus chromosome abnormality rate of the first spontaneous abortion and repeated abortions were 40.54 and 33.64%, respectively (P < 0.05). The rate of chromosome abnormality in women with advanced maternal age and women younger than 35 years old were 46.43 and 32.76%, respectively (P < 0.05). In a recall of 112 couples for peripheral blood karyotype analysis, just 3 cases of 7 patients with peripheral blood chromosome abnormality showed abnormal FISH results in their abortion villi. Fetal chromosome number abnormality is a major cause of early abortion, and parental chromosomal abnormality is not the main factor in abnormal fetal karyotype. A complete evaluation and special treatment should be provided to couples with a history of recurrent miscarriage.

Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes.

The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-ß in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS.

Biological monitoring and B chromosome frequency in Bagre (Rhamdia quelen) in southeast Brazil.

The genus Rhamdia presents B chromosomes which appear to be present in most species of the genus and thus represent an important characteristic in the evolutionary process. Furthermore, variations in environmental conditions can induce the presence of B chromosomes generated by alterations in the cell cycle, due to the interference from pollutants. The present study aimed to evaluate the cytogenetic aspects of individuals of a population of Rhamdia quelen collected in three areas with differing standards of water quality in the River Uberabinha, a region of the County of Uberlandia, Minas Gerais, Brazil. The Piscine Micronucleus Test results indicate significant genotoxic and cytotoxic potential at the sampling Sites. The chromosome count yielded the modal number 2n=58 with variance between zero and seven B chromosomes. The highest frequency of B chromosomes and the presence of karyotypes with seven supernumerary chromosomes occurred at Site 3, referring, thus, to the location of the highest genotoxic potential. There was a positive correlation between the presence of B chromosomes and the reduction in environmental quality. Therefore, the process of bioaccumulation of heavy metals in aquatic environments may be crucial to determine the presence of B chromosomes.

Avaliação cariotípica de pacientes com clínica de Síndrome de Down no HUAP-UFF / Karyotypic evaluation of patients with down syndrome clinic in HUAP-UFF

O objetivo do presente estudo foi analisar o perfil cariotípico de pacietnes que deram entrada no Hospital Universitário Antonio Pedro-HUAP (Universidade Federal Fluminense), durante o período de 2006 a 2010, com clínica de síndrome de Down (SD) e determinar a ocorrência de cariótipos clássicos, mosaicismos e translocações. Para avaliação do cariótipo foi realizada a técnica de bandeamento G a partir de culturas de linfócitos. Dos 157 pacietnes que tiveram avaliação cariotípica solicitada no Laboratório de Hematologia-HUAP, 39 tinham clínica de SD, sendo que 32 apresentavam trissomia do cromossomo 21, um, translocação 21q:21q e, dois, translocação 14q:21q. Dois casos de mosaicismo foram detectados. Duas amostras não foram diagnosticadas como SD. Além disso, dois foram detectados. Duas amostras não foram diagnosticadas como SD. Além disso, dois casos não associados à suspeita clínica de Síndrome de Down foram diagnosticados como trissomia de cromossomo 21. O diagnóstico preciso da SD é fundamental para a orientação clínica adequada dos indivíduos afetados e para o fornecimento de informações relevantes ao planejamento familiar. O presente estudo indica a ocorrência destas alterações genéticas na população encaminhada ao Laboratório de Hematologia-HUAP, para análise do perfil cariotípico, demonstrando que o diagnóstico laboratorial correto é necessário para confirmar a clínica dos pacientes, salientando a importância da interação clínico laboratorial.

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome.

The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene.

Chromosome abnormalities, Y-chromosome microdeletions, and androgen receptor gene CAG and GGN repeat polymorphisms in infertile Chinese men featuring severe oligospermia and azoospermia were analyzed. Ninety-six fertile men and 189 non-obstructive infertile men, including 125 patients with azoospermia and 64 with severe oligozoospermia, were studied. Seventeen infertile men (9.0%) carried a chromosome abnormality. Twenty (10.6%) carried a Y-chromosome microdeletion. In the remainder of the patients and controls, GGN and CAG repeats were sequenced. Short GGN repeats (n < 23) appeared to be associated with defective spermatogenesis, with the number of GGN repeats strongly correlated with sperm counts. No significant difference in CAG repeats was found between patients and controls, nor were CAG repeats correlated with sperm counts. However, for CAG repeats ranging between 24 and 25, there was a >2.5-fold risk (OR = 2.539, 95%CI = 1.206-5.344, P < 0.05) of severe oligospermia and azoospermia. Our results confirmed the significant role of chromosome abnormalities, Y-chromosome microdeletions, and GGN repeats in Chinese male infertility.