Discordant sex in monozygotic XXY/XX twins: a case report

• Published in: Human reproduction (Oxford) Vol. 29; no. 12; pp. 2814 - 2820
• Main Authors: Tachon, G., Lefort, G., Puechberty, J., Schneider, A., Jeandel, C., Boulot, P., Prodhomme, O., Meyer, P., Taviaux, S., Touitou, I., Pellestor, F., Geneviève, D., Gatinois, V.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.12.2014; Oxford University Press (OUP)
• Subjects: Child, Preschool; Comparative Genomic Hybridization; DNA Copy Number Variations; Female; Gonadotropins - blood; Humans; Karyotype; Klinefelter Syndrome - genetics; Life Sciences; Male; Mosaicism - embryology; Phenotype; Testosterone - blood; Twinning, Monozygotic - genetics; Twins - genetics; monozygotic; sex discordance; twin; Klinefelter; mosaicism

We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity ana...