两名患有der(5),t(5;9)(p15.1;q34.13)的儿童同时出现9号染色体长臂3区三体和5号染色体短臂单体：一个大家庭的报告
Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.
作者信息
Wellesley D, Young I D, Cooke P, Callen D F, Hockey A
机构信息
Clinical Genetics Department, Irrabeena and Princess Margaret Hospital, Perth, West Australia.
出版信息
J Med Genet. 1988 Oct;25(10):707-10. doi: 10.1136/jmg.25.10.707.
Abstract
We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.
摘要
我们报告了一个家系，其成员存在t(5;9)(p15.1;q34.13)。确定了两例具有der(5)，t(5;9)的病例，导致9q34.13----qter部分重复和5p15.12----pter部分缺失。其表型与猫叫综合征和9q3三体综合征的特征一致。
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