Alliet J, Leporrier N, Lebris C, Gourdier D
Laboratoire de Cytologie Génitale, Pr J. Izard, CHU, Côte de Nacre, Caen, France.
Prenat Diagn. 1989 Jan;9(1):61-5. doi: 10.1002/pd.1970090109.
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.
一例46,XY/47,X,i(Xq)Y嵌合体在孕18周时通过羊水细胞诊断，并在出生时通过患儿淋巴细胞得到证实。本文回顾了关于伴有X染色体结构重排的克兰费尔特综合征的文献。这是首次报道的男孩嵌合等臂染色体Xq病例。
