A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

被引：8

作者：

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

Tzen, Chin-Yuan ^{[5
]}

Chern, Schu-Rern ^{[2
]}

Tsai, Fuu-Jen ^{[4
,6
,7
]}

Hsu, Chin-Yuan ^{[1
]}

Lee, Chen-Chi ^{[1
]}

Lee, Meng-Shan ^{[1
]}

Pan, Chen-Wen ^{[1
]}

Wang, Wayseen ^{[2
,8
]}

机构：

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

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

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

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

[5] Mackay Mem Hosp, Dept Pathol, Taipei, Taiwan

[6] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan

[7] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan

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

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2009年 / 52卷 / 01期

关键词：

Distal 6p deletion; Prenatal diagnosis; Orofacial clefting; Dandy-Walker malformation; Multicystic dysplasia of the kidneys; Array-CGH; FOXC1; OFC1; CHROMOSOME; 6P; HEREDITARY HYDRONEPHROSIS; DYSPLASIA; LOCUS;

D O I：

10.1016/j.ejmg.2008.11.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12 Mb deletion of 6p24.1 -> pter. (C) 2008 Elsevier Masson SAS. All rights reserved.

引用

页码：59 / 61

页数：3

共 11 条

[1] Human genetic factors in nonsyndromic cleft lip and palate: An update [J].