%0 Journal Article
%T An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.
%A Chen CP
%A Lin SP
%A Liu YP
%A Chern SR
%A Wu PS
%A Su JW
%A Chen YT
%A Lee CC
%A Wang W
%J Gene
%V 529
%N 1
%D Oct 2013 15
%M 23933416
%F 3.913
%R 10.1016/j.gene.2013.07.045
%X 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.