Biederman B M, Lin C C, Lowry R B, Somerville R
Hum Genet. 1980 Feb;53(2):173-7. doi: 10.1007/BF00273491.
We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter = to 22q13 :: 11q25 = to 11qter) in a child with mental retardation, cleft palate, and congenital heart disease resulting from 3 : 1 meiotic nondisjunction in a maternal (11;22) translocation carrier. The clinical findings in previously reported cases are reviewed and compared with the features of reported patients with "partial trisomy 11q" and "trisomy 22" syndromes. Half of the ten reported families had additional balanced translocation carriers who may have an increased risk of having a liveborn child with an MCA/MR syndrome, although none have been reported to date.
我们描述了一例患有智力发育迟缓、腭裂和先天性心脏病的儿童，其核型为47,XX,+der(22),(22pter = to 22q13 :: 11q25 = to 11qter)的三级三体（22q11q），病因是母亲为（11；22）易位携带者，减数分裂时发生3:1不分离。我们回顾了先前报道病例的临床发现，并与报道的“部分11q三体”和“22三体”综合征患者的特征进行了比较。在报道的10个家庭中，有一半有额外的平衡易位携带者，他们生育患有MCA/MR综合征活产儿的风险可能增加，尽管迄今为止尚未有相关报道。
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