一名因母亲发生2号染色体与7号染色体易位而出现7号染色体短臂1区3带至短臂末端重复及2号染色体短臂2区3带至短臂末端缺失的患者报告。

A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation.

作者信息

Türköver B Bilge, Sayar Ceyhan, Toksoy Güven, Elçioğlu Nursel

机构信息

Department of Genetics, Zeynep Kamil Women's and Children's Hospital, Istanbul, Turkey.

出版信息

Turk J Pediatr. 2009 Mar-Apr;51(2):174-9.

PMID:19480332

Abstract

We report a patient with severe developmental delay, failure to thrive, microbrachycephaly, large anterior fontanel, ocular hypertelorism, broad nasal bridge, low-set ears, long philtrum, micrognathia, partial cleft palate, broad distal digits, abnormal palmar creases, joint contractures, and cardiovascular anomaly. Cytogenetic analysis with high resolution chromosome banding showed an unbalanced karyotype of 46,XX, der(2)t(2;7)(p23;p13) originating from a maternal balanced translocation. Our patient showed a duplication of 7p13-->pter and a deletion of 2p23-->pter. Our analysis suggests that duplication 7p is associated with a recognizable characteristic phenotype.

摘要

我们报告了一名患有严重发育迟缓、生长发育不良、小头畸形、前囟门大、眼距增宽、鼻梁宽、耳位低、人中长、小颌畸形、部分腭裂、远端指骨宽大、手掌褶痕异常、关节挛缩和心血管异常的患者。高分辨率染色体显带的细胞遗传学分析显示核型不平衡，为46,XX，der(2)t(2;7)(p23;p13)，源自母亲的平衡易位。我们的患者显示7p13→pter重复和2p23→pter缺失。我们的分析表明，7p重复与可识别的特征性表型相关。