关键词： 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

Mesh ： Cell Cycle Proteins Chromosome Deletion Chromosomes, Human, Pair 8 / genetics Comparative Genomic Hybridization DNA-Binding Proteins / genetics De Lange Syndrome / genetics Epilepsy / genetics Genetic Association Studies Humans KCNQ3 Potassium Channel / genetics Langer-Giedion Syndrome / genetics Male N-Acetylglucosaminyltransferases / genetics Nuclear Proteins / genetics Phosphoproteins / genetics Repressor Proteins Transcription Factors / genetics Young Adult

来  源：   DOI：10.1016/j.gene.2013.07.045   PDF(Sci-hub)

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.
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