Münke M, Emanuel B S, Zackai E H
Division of Clinical Genetics, Children's Hospital of Philadelphia, Pennsylvania.
Am J Med Genet. 1988 Aug;30(4):929-38. doi: 10.1002/ajmg.1320300409.
Chromosome analysis with high-resolution banding showed a small de novo interstitial deletion of chromosome 2(p21----p22.2) in an infant with holoprosencephaly. This is the first such observation. There is a well-known association with abnormalities of chromosome 13 (most commonly trisomy 13, but also dup(13q) and del(13q) and chromosome 18 (most often del(18p), but also trisomy 18). Review of the literature also showed duplications of 3p and deletions of 7q to be causes of the holoprosencephaly defect.
高分辨率显带染色体分析显示，一名患全前脑畸形的婴儿存在2号染色体（p21----p22.2）的小的新发中间缺失。这是首次此类观察结果。已知其与13号染色体异常（最常见的是13三体，但也有dup(13q)和del(13q)）以及18号染色体异常（最常为del(18p)，但也有18三体）有关。文献回顾还显示，3p重复和7q缺失也是全前脑畸形缺陷的病因。
