Article
Discordant sex in monozygotic XXY/XX twins: a case report.
Human reproduction (Oxford, England) - 1 Dec 2014
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
Abstract excerpt
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 analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array comparative genomic...
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