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

作者：Chen Chih Ping^*; Lin Shuan Pei; Liu Yu Peng; Chern Schu Rern; Wu Peih Shan; Su Jun Wei; Chen Yu Ting; Lee Chen Chi; Wang Wayseen

来源：Gene, 2013, 529(1): 176-180.

DOI：10.1016/j.gene.2013.07.045

• 8q23.3-q24.22 deletion
• Cornelia de Lange syndrome-4
• EXT1
• RAD21
• Trichorhinophalangeal syndrome
• TRPS1

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-q2.22 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.

• 出版日期2013-10-15
• 单位中国医科大学