An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/65077

jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://asiair.asia.edu.tw/ir/handle/310904400/65077

题名:	An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
作者:	陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Liu, Yu-Peng;Liu, Yu-Peng;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen
贡献者:	生物科技學系
关键词:	8q23.3–q24.22 deletion;Cornelia de Lange syndrome-4;EXT1;RAD21;Trichorhinophalangeal syndrome;TRPS1
日期:	2013-10
上传时间:	2013-12-06 06:43:19 (UTC+0)
摘要:	We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3–q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers–Danlos syndrome. However, his clinical findings are in fact correlated with trichorhinophalangeal syndrome type II/Langer–Giedion syndrome and Cornelia de Lange syndrome-4. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case. Abbreviations aCGH, array comparative genomic hybridization; OMIM, Online Mendelian Inheritance in Man; EDS, Ehlers–Danlos syndrome; TRPS, trichorhinophalangeal syndrome; del, deletion; LGS, Langer–Giedion syndrome; CDLS4, Cornelia de Lange syndrome-4; QF-PCR, quantitative fluorescent polymerase chain reaction; CT, computed tomography; BAC, bacterial artificial chromosome; FISH, fluorescence in situ hybridization; NCBI, National Center for Biotechnology Information
關聯:	GENE
显示于类别:	[生物科技學系] 期刊論文

文件中的档案:

档案	大小	格式	浏览次数
index.html	0Kb	HTML	433	检视/开启

在ASIAIR中所有的数据项都受到原著作权保护.

数据加载中.....