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Case Reports
. 1989 Jan;9(1):61-5.
doi: 10.1002/pd.1970090109.

Prenatal diagnosis of a mosaic 46,XY/47,X,i(Xq)Y

J Alliet  1 , N Leporrier, C Lebris, D Gourdier
Affiliations
Case Reports

Prenatal diagnosis of a mosaic 46,XY/47,X,i(Xq)Y

J Alliet et al. Prenat Diagn. 1989 Jan.

Abstract

A case of mosaic 46,XY/47,X,i(Xq)Y is diagnosed at 18 gestational weeks in amniotic fluid cells and confirmed at birth in the lymphocytes of the child. The literature on Klinefelter's syndromes with structural chromosome X rearrangements is reviewed. This is the first case reported of a mosaic isochromosome Xq in a boy.

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