Prenatal diagnosis of a mosaic 46,XY/47,X,i(Xq)Y.
Journal - Prenatal diagnosis (ENGLAND )
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.
|ISSN : ||0197-3851|
|Mesh Heading : ||Amniocentesis Amniotic Fluid Chromosome Banding Female Fetal Diseases Humans Klinefelter Syndrome Lymphocytes Male Pregnancy analysis genetics genetics analysis|
|Mesh Heading Relevant : ||Mosaicism diagnosis diagnosis|