title: Prenatal diagnosis of a mosaic 46,XY/47,X,i(Xq)Y.
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.
authors.affiliation: Laboratoire de Cytologie Génitale, Pr J. Izard, CHU, Côte de Nacre, Caen, France.
authors.forename: J
authors.initials: J
authors.lastname: Alliet
authors.forename: N
authors.initials: N
authors.lastname: Leporrier
authors.forename: C
authors.initials: C
authors.lastname: Lebris
authors.forename: D
authors.initials: D
authors.lastname: Gourdier
mesh_terms: 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