Assuntos
Amniocentese , Hibridização Genômica Comparativa , Dupla Via de Saída do Ventrículo Direito , Transposição dos Grandes Vasos , Ultrassonografia Pré-Natal , Humanos , Feminino , Gravidez , Adulto , Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem , Dupla Via de Saída do Ventrículo Direito/embriologia , Transposição dos Grandes Vasos/diagnóstico por imagem , Síndrome de DiGeorge/genética , DNA/análise , CariótipoRESUMO
We present a rare male fetus with karyotype of mosaic 45,X that comprises two types of aberrant Y chromosomes arising de novo (Yq12 deletion and isodicentric Yq11.22). Both types of the aberrant Y chromosomes lack the AZFc region which are expected to result in oligospermia but unaffected male external genitalia. Genetic analyses by karyotyping, chromosome microarray (CMA), and multiplex ligation-dependent probe amplification (MLPA) for the fetus revealed conflicting results. Additional molecular cytogenetics tools including fluorescence in situ hybridization (FISH) and multicolor banding (mBAND) were performed, which help resolving the discrepancy and delineated the composition of the aberrant Y chromosomes. This report highlighted the importance of incorporating multiple genetic technologies for accurate characterization of complex chromosomal rearrangements, which aid in the prenatal diagnosis and genetic counseling.