RESUMO
OBJECTIVE: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different methods. Our aim was to stand out the utility of urothelial cells for unravelling complex and hidden cell lines in DSD patients. CASE REPORT: Herein we report on a 19-year-old female with primary amenorrhea, short stature without ambiguous external genitalia. She had a 45,X/46, XY karyotype in leukocytes. Interphase FISH revealed hidden 45,X/47,XYY/47,XXY/46,XY/46, XX mosaicism in leukocytes and urothelial cells. CONCLUSION: These findings highlight the importance of investigating sex chromosome mosaicism in other tissues. Of particular interest in cases of DSD are the cells from the urinary epithelium, which may reflect the cell composition of the urogenital ridge, the analysis of these cells should be considered within the clinical assessment of DSD patients.
Assuntos
Amenorreia/congênito , Transtornos do Desenvolvimento Sexual/diagnóstico , Mosaicismo , Aberrações dos Cromossomos Sexuais , Cromossomos Sexuais/genética , Análise Citogenética , Transtornos do Desenvolvimento Sexual/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem , Leucócitos/citologia , Urotélio/citologia , Adulto JovemRESUMO
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most frequent inherited and lethal neuromuscular disorder in humans. Molecular prenatal diagnosis of DMD through amniocentesis is a real preventive reproductive option in our country, although experience with chorionic villus sampling is still limited (CVS). OBJECTIVE: Perform the first prenatal diagnosis in an obligate DMD carrier woman in Mexico by CVS. MATERIAL AND METHOD: CVS was performed in an obligate DMD carrier woman in which no partial intragenic deletions were present but a haplotype at-risk was identified. Cytogenetic analysis with GTG banding was performed and genomic DNA extraction from CVS sample was done without culture. Fetal gender assignment was achieved by ultrasonography at 12 weeks of gestation and confirmed by PCR amplification of two Y chromosome-linked loci (SRY and DYS389I/II). Identification of the DMD haplotype at-risk in the fetus was done through analysis of the intragenic markers pERT87.8/TaqI and pERT87.15/Xmnl. RESULTS: Absence of PCR products corresponding to Y chromosome-linked loci in DNA CVS sample was compatible with a female fetus; it was confirmed later by cytogenetic study and prenatal ultrasound follow-up. Linkage analysis reveals that the female fetus inherited the DMD haplotype at-risk. We did not identify any maternal DNA contamination in CVS molecular analysis and these results were postnatally confirmed in DNA obtained from buccal cells. CONCLUSION: Molecular prenatal diagnosis through chorionic villus sampling could be an early reproductive prevention strategy applicable to Duchenne/Becker muscular dystrophy carrier women in our country.
Assuntos
Amostra da Vilosidade Coriônica , Distrofia Muscular de Duchenne/patologia , Adulto , Alelos , Feminino , Humanos , Técnicas de Diagnóstico Molecular , Distrofia Muscular de Duchenne/genética , LinhagemRESUMO
Las alteraciones cromosómicas explican un tercio de la etiología genética de los trastornos de la reproducción; el objetivo del estudio fue determinar la frecuencia de las alteraciones de los sexocromosomas (SC) en población mestiza con amenorrea, esterilidad e infertilidad en el Instituto Nacional de Perinatología. Se realizaron estudios citogenéticos en el laboratorio de Genética en muestras de sangre periférica del 1 de enero de 1984 al 31 de diciembre de 1995, con indicación de amenorrea, esterilidad, infertilidad o antecedente de hijo con defecto congénito sugestivo de cromosopatía y se correlacionaron con los hallazgos clínicos. Se revisaron las fórmulas cromosómicas de 3,201 cariotipos realizados en sangre periférica: se detectaron 61 pacientes con alteración de los sexocromosomas, predominando los mosaicos. Las alteraciones de SC se encontraron en 1.5 por ciento de las pacientes estudiadas y deben considerarse dentro de la etiología al estudiar esterilidad e infertilidad