8p 染色体镶嵌性三体性

Mosaic tetrasomy 8p.

作者信息

Newton D, Hammond L, Wiley J, Kushnick T

机构信息

Department of Pediatrics, ECU School of Medicine, Greenville, NC 27858-4354.

出版信息

Am J Med Genet. 1993 Jun 15;46(5):513-6. doi: 10.1002/ajmg.1320460510.

DOI:10.1002/ajmg.1320460510

PMID:8322811

Abstract

We report on a patient with mosaic tetrasomy 8p [46,XX/47,XX+i(8p)]. The patient has 2 fused vertebrae, abnormal ribs, congenital heart defects, agenesis of corpus callosum, hypotonia, and delayed development. The patient's developmental delays are most marked in receptive and expressive language skills, with more moderate delays on cognitive, sensorimotor, and motor skill testing. These findings are similar to those of the 3 previously reported patients with mosaic i(8p).

摘要

我们报告了一名患有8p染色体镶嵌性四体[46,XX/47,XX+i(8p)]的患者。该患者有2节融合椎骨、肋骨异常、先天性心脏缺陷、胼胝体发育不全、肌张力减退和发育迟缓。患者的发育迟缓在接受性和表达性语言技能方面最为明显，在认知、感觉运动和运动技能测试方面有中度延迟。这些发现与之前报道的3例镶嵌性i(8p)患者的情况相似。