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

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

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)12-14
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume84
Issue number1
DOIs
StatePublished - 7 May 1999
Externally publishedYes

Keywords

  • 46,XX/46,XY mosaicism
  • Phenotype
  • Prenatal diagnosis

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