Prenatal diagnosis of a mosaic 46,XY/47,X,i(Xq)Y.
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.
Alliet
J
J
Laboratoire de Cytologie Génitale, Pr J. Izard, CHU, Côte de Nacre, Caen, France.
Leporrier
N
N
Lebris
C
C
Gourdier
D
D
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000032:analysis; D002871:Chromosome Banding; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000235:genetics; D008214:Lymphocytes / Q000032:analysis; D008297:Male; D009030:Mosaicism; D011247:Pregnancy