一名具有4q-表型患者4号染色体内复杂重排的细胞遗传学和阵列比较基因组杂交特征分析

Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype.

作者信息

Sensi Alberto, Prontera Paolo, Buldrini Barbara, Palma Silvia, Aiello Vincenzo, Gruppioni Rita, Calzolari Elisa, Volinia Stefano, Martini Alessandro

机构信息

Genetica Medica, Università di Ferrara, Ferrara, Italy.

出版信息

Am J Med Genet A. 2008 Jan 1;146A(1):110-5. doi: 10.1002/ajmg.a.32059.

DOI:10.1002/ajmg.a.32059

PMID:18074369

Abstract

We report on a 3-year-old child who presented a de novo rearrangement of chromosome 4, detected on GTG banding and characterized by array CGH and FISH, as a complex intrachromosomal rearrangement with three deletions: del(q32.1q32.2), del(q33q34.1), del(q35.2), one tandem duplication dup(q34.3q35.1) and short normal regions in between. The study of karyotype-phenotype correlations in this and other patients with deletions of 4q suggests 4q33q34.1 as a candidate region for 4q-syndrome and for craniofacial development.

摘要

我们报告了一名3岁儿童，其4号染色体出现新发重排，通过GTG显带检测到，并经阵列比较基因组杂交（array CGH）和荧光原位杂交（FISH）进行特征分析，为一种复杂的染色体内重排，伴有三个缺失：del(q32.1q32.2)、del(q33q34.1)、del(q35.2)，一个串联重复dup(q34.3q35.1)，以及其间的短正常区域。对该患者及其他4q缺失患者的核型-表型相关性研究表明，4q33q34.1是4q综合征和颅面发育的候选区域。