患有假双着丝粒13号染色体的单卵双胞胎男孩出现类歌舞伎综合征特征。

Lynch S A, Ashcroft K A, Zwolinski S, Clarke C, Burn J

Department of Human Genetics, University of Newcastle upon Tyne, UK.

J Med Genet. 1995 Mar;32(3):227-30. doi: 10.1136/jmg.32.3.227.

We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere and satellite stalks at 13q12.11: 46,XY,psu dic(13)(13pter-->13q12.11::13p12-->13q11.00:: 13q12.11-->13qter). Their phenotypically normal mother appears to carry the same pseudodicentric chromosome 13.

我们报告了一对患有歌舞伎综合征特征的单卵双胞胎男孩。这对双胞胎在腭裂和主动脉缩窄方面表现不一致。单卵双胞胎中出现歌舞伎综合征此前尚未见报道，这进一步支持了该病具有遗传基础的观点。对这两个男孩的染色体分析显示，存在一条假双着丝粒13号染色体，其着丝粒无活性，在13q12.11处有卫星柄：46，XY，psu dic(13)(13pter→13q12.11::13p12→13q11.00::13q12.11→13qter)。他们表型正常的母亲似乎也携带同样的假双着丝粒13号染色体。