12号染色体长臂缺失：一名患有12q24.31q24.32缺失的患者

Deletion 12q: a second patient with 12q24.31q24.32 deletion.

作者信息

Plotner Pamela L, Smith Janice L, Northrup Hope

机构信息

Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, 77030, USA.

出版信息

Am J Med Genet A. 2003 May 1;118A(4):350-2. doi: 10.1002/ajmg.a.10232.

DOI:10.1002/ajmg.a.10232

PMID:12687666

Abstract

We report on a 20-month-old patient with facial dysmorphisms, microcephaly, cardiac septal defects, global developmental delay, and failure to thrive. Karyotypic evaluation revealed an interstitial deletion of the long arm of one chromosome 12, del(12)(q24.31q24.32). Only one other patient with a similar deletion has been reported previously. By comparing the two patients, we can begin to identify a characteristic phenotypic pattern.

摘要

我们报告了一名20个月大的患者，其患有面部畸形、小头畸形、心脏间隔缺损、全面发育迟缓以及生长发育不良。核型评估显示一条12号染色体长臂存在间质缺失，即del(12)(q24.31q24.32)。此前仅报道过另外一名具有类似缺失的患者。通过比较这两名患者，我们能够开始识别出一种特征性的表型模式。