Yip M Y, Kemp J, Hanson N, Wilson M, Purvis-Smith S, Lam-Po-Tang P R
Cytogenetics Unit, Prince of Wales Hospital, Sydney, Australia.
Am J Med Genet. 1989 Jun;33(2):220-3. doi: 10.1002/ajmg.1320330215.
A 2-year-old boy with gross motor delay and few minor anomalies has a pure duplication of a small segment of chromosome 5q11.2----q13.1. A balanced insertion of this 5q segment into chromosome 20q proximal to the centromere has been found in his father, uncle, and paternal grandmother.
一名患有粗大运动发育迟缓且有一些轻微异常的2岁男孩,其5号染色体q11.2----q13.1的一小段发生了单纯重复。在他的父亲、叔叔和祖母中发现了该5号染色体片段向20号染色体着丝粒近端的平衡插入。