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

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Title:	An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
Authors:	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
Contributors:	生物科技學系
Keywords:	8q23.3–q24.22 deletion;Cornelia de Lange syndrome-4;EXT1;RAD21;Trichorhinophalangeal syndrome;TRPS1
Date:	2013-10
Issue Date:	2013-12-06 06:43:19 (UTC+0)
Abstract:	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
Relation:	GENE
Appears in Collections:	[生物科技學系] 期刊論文

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