| Literature DB >> 23933416 |
Chih-Ping Chen1, Shuan-Pei Lin, Yu-Peng Liu, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Wayseen Wang.
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.Entities:
Keywords: 8q23.3–q24.22 deletion; BAC; CDLS4; CT; Cornelia de Lange syndrome-4; EDS; EXT1; Ehlers–Danlos syndrome; FISH; LGS; Langer–Giedion syndrome; NCBI; National Center for Biotechnology Information; OMIM; Online Mendelian Inheritance in Man; QF-PCR; RAD21; TRPS; TRPS1; Trichorhinophalangeal syndrome; aCGH; array comparative genomic hybridization; bacterial artificial chromosome; computed tomography; del; deletion; fluorescence in situ hybridization; quantitative fluorescent polymerase chain reaction; trichorhinophalangeal syndrome
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Year: 2013 PMID： 23933416 DOI： 10.1016/j.gene.2013.07.045
Source DB: PubMed Journal: Gene ISSN： 0378-1119 Impact factor: 3.688