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Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report

✍ Scribed by Yaron, Yuval; Feldman, Baruch; Kramer, Ralph L.; Kasperski, Stefanie B.; Vo, Trieu; Feldman, Gerald L.; Johnson, Mark P.; Evans, Mark I.; Ebrahim, Salah A.D.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 13 KB
Volume: 84
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990507)84:1<12::aid-ajmg3>3.0.co;2-u

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✦ Synopsis

We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism.

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