Thode A, Partington M W, Yip M Y, Chapman C, Richardson V F, Turner G
Department of Medical Genetics, Prince of Wales Children's Hospital, Sydney, Australia.
Am J Med Genet. 1988 May-Jun;30(1-2):239-50. doi: 10.1002/ajmg.1320300125.
We describe a new X-linked syndrome of marked short stature, severe intellectual handicap and an unusual facial appearance. High resolution prometaphase banding showed affected males to have an X chromosome tandem duplication; their karyotypes were designated 46,dup(X) (q13.1-q21.1)Y. In carrier females the abnormal X chromosome was late replicating. To verify the duplication, gene dosage studies were performed using an enzyme assay and DNA techniques. Prenatal diagnosis is available for carrier females using chromosome analysis of amniocytes or chorionic villi.
我们描述了一种新的X连锁综合征，其特征为显著身材矮小、严重智力障碍和独特的面部外观。高分辨率早中期显带显示患病男性有一条X染色体串联重复；他们的核型被指定为46,dup(X)(q13.1-q21.1)Y。在携带者女性中，异常的X染色体复制延迟。为了验证这种重复，使用酶测定和DNA技术进行了基因剂量研究。对于携带者女性，可以通过羊膜细胞或绒毛膜绒毛的染色体分析进行产前诊断。
