Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay

被引：1

作者：

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

Chang, Shu-Yuan ^{[1
]}

Lin, Shuan-Pei ^{[2
,7
,8
,9
]}

Chern, Schu-Rern ^{[2
]}

Wu, Peih-Shan ^{[10
]}

Chen, Shin-Wen ^{[1
]}

Lai, Shih-Ting ^{[1
]}

Chuang, Tzu-Yun ^{[1
]}

Chen, Wen-Lin ^{[1
]}

Wang, Wayseen ^{[2
,11
]}

机构：

[1] MacKay Mem Hosp, Dept Obstet & Gynecol, 92,Sect 2,Chung Shan North Rd, Taipei, Taiwan

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

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

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

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

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

[7] MacKay Mem Hosp, Dept Pediat, Taipei, Taiwan

[8] MacKay Med Coll, Dept Med, New Taipei, Taiwan

[9] Natl Taipei Univ Nursing & Hlth Sci, Dept Early Childhood Care, Taipei, Taiwan

[10] Gene Biodesign Co Ltd, Taipei, Taiwan

[11] Tatung Univ, Dept Bioengn, Taipei, Taiwan

来源：

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 2018年 / 57卷 / 05期

关键词：

MOLECULAR CYTOGENETIC CHARACTERIZATION; PRENATAL-DIAGNOSIS; MISSENSE MUTATIONS; TERMINAL DELETION; INCLUDING YWHAE; GENE HIC1; LIS1; MICRODELETIONS; EXPRESSION;

D O I：

10.1016/j.tjog.2018.08.031

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

[No abstract available]

引用

页码：765 / 768

页数：4