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

被引：9

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
,7
]}

Lin, Shuan-Pei ^{[2
,3
,8
,9
]}

Liu, Yu-Peng ^{[9
,10
]}

Chern, Schu-Rern ^{[2
]}

Wu, Peih-Shan ^{[11
]}

Su, Jun-Wei ^{[1
,12
]}

Chen, Yu-Ting ^{[2
]}

Lee, Chen-Chi ^{[2
]}

Wang, Wayseen ^{[2
,13
]}

机构：

[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan

[3] Mackay Med Coll, Dept Med, New Taipei City, Taiwan

[4] Asia Univ, Dept Biotechnol, Taichung, Taiwan

[5] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan

[6] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan

[7] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan

[8] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan

[9] Mackay Med Nursing & Management Coll, Taipei, Taiwan

[10] Mackay Mem Hosp, Hsinchu Branch, Dept Radiol, Hsinchu, Taiwan

[11] Gene Biodesign Co Ltd, Taipei, Taiwan

[12] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan

[13] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan

来源：

GENE | 2013年 / 529卷 / 01期

关键词：

8q23.3-q24.22; deletion; Cornelia de Lange syndrome-4; EXT1; RAD21; Trichorhinophalangeal syndrome; TRPS1; SYNDROME TYPE-I; POTASSIUM CHANNEL SUBUNITS; MULTIPLE EXOSTOSES; IDIOPATHIC EPILEPSY; MUTATIONS; GENE; TRPS1; 8Q24; HETEROZYGOSITY; ABNORMALITIES;

D O I：

10.1016/j.gene.2013.07.045

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：176 / 180

页数：5

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