22号染色体部分三体综合征问题的重新审视。
The problem of partial trisomy 22 reconsidered.
作者信息
Feldman G M, Sparkes R S
出版信息
Hum Genet. 1978 Nov 24;45(1):97-101. doi: 10.1007/BF00277580.
PMID:730187
Abstract
A patient with partial trisomy 22(PT22) is presented. Inheritance is presumed to be due to secondary nondisjunction in her mother, who has a balanced translocation t(11;22)(q25;q13). The problem of the phenotypic heterogeneity observed with this chromosome change is discussed.
摘要
本文报告了一名22号染色体部分三体（PT22）患者。据推测，其遗传原因是母亲发生了继发性不分离，母亲有一条平衡易位t(11;22)(q25;q13)。文中讨论了这种染色体改变所观察到的表型异质性问题。
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