McLeod D R, Fowlow S B, Robertson A, Samcoe D, Burgess I, Hoo J J
Division of Medical Genetics, Faculty of Medicine, University of Alberta, Calgary, Canada.
Am J Med Genet. 1990 Jan;35(1):79-84. doi: 10.1002/ajmg.1320350115.
Here we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY, del(6)(pter----q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY, del(6)(pter----q23::q25----qter)). The association of retinal abnormalities in 6q deletions is supported, and the additional manifestations of skin hyperextensibility, sacral abnormality, and imperforate anus are described.
在此，我们报告另外两例6号染色体长臂远端缺失的病例，其中一例显示6号染色体末端缺失（46,XY, del(6)(pter----q26:))，另一例显示6号染色体中间缺失（46,XY, del(6)(pter----q23::q25----qter)）。6号染色体缺失与视网膜异常的关联得到了支持，并描述了皮肤过度伸展、骶骨异常和肛门闭锁等其他表现。
