História clínica de um indivíduo com cariótipo 45,X/47,XY,+21
Palabras clave:
Aneuploidia, Mosaicismo, Síndrome de Down, Síndrome de TurnerResumen
Descreve-se a evolução clínica de um menino de 12 anos, avaliado inicialmente com 26 meses, por suspeita de síndrome de Down, apresentando sinais dismórficos, baixa estatura e leve atraso do desenvolvimento neuropsicomotor. As investigações cardíaca e renal foram normais. A análise cromossômica de linfócitos do sangue periférico e de fibroblastos de biópsia de pele mostrou mosaicismo 45,X/47,XY,+21. Trata-se da quinta descrição deste cariótipo no sexo masculino e a primeira abordando a história clínica do portador da alteração cromossômica.
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