由于来自一位母亲平衡易位t(4;13)(p16;q11) 3:1分离的互补配子导致的4p重复和4p缺失（沃尔夫-赫希霍恩综合征）

Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.

作者信息

Takeno S S, Corbani M, Andrade J A D, Smith M de A C, Brunoni D, Melaragno M I

机构信息

Genetics Division, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

出版信息

Am J Med Genet A. 2004 Aug 30;129A(2):180-3. doi: 10.1002/ajmg.a.30224.

DOI:10.1002/ajmg.a.30224

PMID:15316961

Abstract

We present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter.

摘要

我们展示了一个四代人中均存在t(4;13)(p16;q11)易位的家族的临床和细胞遗传学数据。由于3:1分离，这种平衡易位导致了一名4p单体个体和一名4p三体个体。患有4p三体的男性患者具有生育能力，并将额外的染色体遗传给了他的女儿。