家族性t(4;21)(q2.4;q2.2)导致后代染色体不平衡，4号染色体长臂(q2.4)和21号染色体长臂(q2.2)部分重复，无唐氏综合征表现。
Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the Down syndrome.
作者信息
Kitsiou-Tzeli S, Hallett J J, Atkins L, Latt S A, Holmes L B
出版信息
Am J Med Genet. 1984 Aug;18(4):725-9. doi: 10.1002/ajmg.1320180419.
PMID:6237580
Abstract
We report on an infant with a malformation syndrome who had a combination of partial duplication of 4q and 21q as the result of a maternal unbalanced translocation. She has duplication of the proximal portion of chromosome 21, without manifestation of the Down syndrome.
摘要
我们报告了一名患有畸形综合征的婴儿，其因母亲的不平衡易位导致4号染色体长臂部分重复与21号染色体长臂部分重复同时存在。她有21号染色体近端部分的重复，但未表现出唐氏综合征。
Zotero 插件