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Discordant sex in one of three monozygotic triplets.

1985; BMJ; Volume: 22; Issue: 1 Linguagem: Inglês

10.1136/jmg.22.1.6

1468-6244

Bruno Dallapiccola, C Stomeo, Giovanna Ferranti, A Di Lecce, M. Purpura,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

A case is reported of monozygotic triplets, discordant for phenotypic sex, in which the female presented at birth with the features of Turner9s syndrome. Chromosomal analyses showed homogeneous 46,XY karyotypes in the lymphocytes of the three sibs, while a 45,X non-mosaic chromosome constitution was detected in skin fibroblasts of the female triplet. It is suggested that mitotic non-disjunction or anaphase lag occurring early during embryonic development accounted for the occurrence of monosomy X in one cell line of the affected triplet. Previous observations of monozygotic twin pairs discordant for chromosome constitutions are reviewed.