伴有不平衡的t(Y;14)(q12;q32)易位的14号染色体长臂末端缺失

Terminal 14q deletion with unbalanced t(Y;14)(q12;q32) translocation.

作者信息

Bağcı Gülseren, Çetin Gökhan Ozan, Semerci Nur, Toruner Gokce A, Cinbiş Mine

机构信息

Departments of Medical Biology Medical Genetics, Genetic Diagnosis Unit Pediatrics, Pamukkale University, School of Medicine, Denizli, Turkey Institute of Genomic Medicine, UMDNJ-NJ Medical School, New Jersey, USA.

出版信息

Clin Dysmorphol. 2012 Jan;21(1):37-41. doi: 10.1097/MCD.0b013e32834d6ba3.

DOI:10.1097/MCD.0b013e32834d6ba3

PMID:22143350

Abstract

Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome translocations were reported. Here we report the clinical findings of a patient with terminal 14q32 deletion derivated from at (Y;14)(q12;q32) translocation.

摘要

14号染色体长臂末端缺失的报道极为罕见。施奈德等人（2008年）在前一篇文章中回顾了约20例14q32区域缺失的病例，其中仅有3例涉及常染色体易位；然而，未报道有性染色体易位的情况。在此，我们报告一名因t(Y;14)(q12;q32)易位导致14q32末端缺失患者的临床发现。