一名伴有轻微异常的女孩存在7号染色体臂间倒位（inv(7)(p22q11.2)）和8号环状染色体（r(8)(p23q24.3)）。
Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.
作者信息
Verma R S, Conte R A, Pitter J H, Luke S
机构信息
Division of Genetics, Long Island College Hospital-SUNY Health Science Center at Brooklyn, NY 11201.
出版信息
J Med Genet. 1992 Jan;29(1):66-7. doi: 10.1136/jmg.29.1.66.
A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q24.3). The concurrence of these two abnormalities is a rare event and has not been reported previously.
一名13岁女孩因先天性小头畸形、发育迟缓、鼻梁突出、高拱腭及左耳明显低位而前来就诊。发现她有一条7号染色体的臂间倒位和一条8号环状染色体，核型为46,XX,inv(7)(pter----p22::q11.23----p22::q11.23----qter)，r(8)(p23q24.3)。这两种异常同时出现是罕见事件，此前未见报道。
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