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

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題名:	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
貢獻者:	生物科技學系
關鍵詞:	8q23.3–q24.22 deletion;Cornelia de Lange syndrome-4;EXT1;RAD21;Trichorhinophalangeal syndrome;TRPS1
日期:	2013-10
上傳時間:	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
顯示於類別:	[生物科技學系] 期刊論文

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