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Prenatal diagnosis of a mosaic 46,XY/47,X,i (Xq)Y
Author(s) -
Alliet J.,
Leporrier N.,
Lebris C.,
Gourdier D.
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970090109
Subject(s) - isochromosome , mosaic , x chromosome , prenatal diagnosis , medicine , gynecology , obstetrics , karyotype , pregnancy , chromosome , fetus , genetics , biology , history , archaeology , gene
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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