Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes

被引：17

作者：

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

Huang, Ming-Chao ^{[1
]}

Chen, Yi-Yung ^{[1
]}

Chern, Schu-Rern ^{[2
]}

Wu, Peih-Shan ^{[8
]}

Su, Jun-Wei ^{[1
,9
]}

Town, Dai-Dyi ^{[2
]}

Wang, Wayseen ^{[2
,10
]}

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] Gene Biodesign Co Ltd, Taipei, Taiwan

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

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

来源：

GENE | 2013年 / 524卷 / 02期

关键词：

5p deletion; Cerebellar hypoplasia; Cri-du-chat syndrome; Hypospadias; SRD5A1; TPPP; COMPARATIVE GENOMIC HYBRIDIZATION; RAPID ANEUPLOIDY DIAGNOSIS; PARTIAL TRISOMY 7Q; PARTIAL MONOSOMY; CANDIDATE GENES; DELETION; PROTEIN; TPPP/P25; DIFFERENTIATION; MUTATIONS;

D O I：

10.1016/j.gene.2013.03.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1 -> pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：407 / 411

页数：5

共 42 条

[1] A novel class of murine semaphorins with homology to thrombospondin is differentially expressed during early embryogenesis [J].

Adams, RH ;

Betz, H ;

Puschel, AW .

MECHANISMS OF DEVELOPMENT, 1996, 57 (01) :33-45

[2] Antenatal sonographic features of cri-du-chat syndrome [J].

Aoki, S ;

Hata, T ;

Hata, K ;

Miyazaki, K .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 1999, 13 (03) :216-217

[3] Prenatal diagnosis of Cri du chat syndrome with encephalocele [J].

Bakkum, JN ;

Watson, WJ ;

Johansen, KL ;

Brost, BC .

AMERICAN JOURNAL OF PERINATOLOGY, 2005, 22 (07) :351-352

[4] Cri-du-chat syndrome associated with arachnoid cyst causing triventricular hydrocephalus [J].

Balci, S ;

Oguz, KK .

CLINICAL DYSMORPHOLOGY, 2001, 10 (04) :289-290

[5] Role of the Oligodendroglial Cytoskeleton in Differentiation and Myelination [J].

Bauer, Nina G. ;

Richter-Landsberg, Christiane ;

Ffrench-Constant, Charles .

GLIA, 2009, 57 (16) :1691-1705

[6] Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21 → qter) and partial monosomy 6q (6q27 → qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold [J].

Chen, Chih-Ping ;

Chen, Yi-Yung ;

Chern, Schu-Rern ;

Wu, Peih-Shan ;

Su, Jun-Wei ;

Chen, Yu-Ting ;

Chen, Li-Feng ;

Wang, Wayseen .

GENE, 2013, 516 (01) :138-142

[7] Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints [J].

Chen, Chih-Ping ;

Chang, Yao-Lung ;

Chern, Schu-Rern ;

Wu, Peih-Shan ;

Su, Jun-Wei ;

Chen, Wen-Lin ;

Chen, Li-Feng ;

Wang, Wayseen .

GENE, 2013, 516 (01) :132-137

[8] Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester [J].

Chen, Chih-Ping ;

Su, Yi-Ning ;

Weng, Shun-Long ;

Tsai, Fuu-Jen ;

Chen, Chen-Yu ;

Liu, Yu-Peng ;

Chern, Schu-Rern ;

Chen, Wen-Lin ;

Wu, Pei-Chen ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (03) :481-484

[9] Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes [J].

Chen, Chih-Ping ;

Lin, Shuan-Pei ;

Su, Yi-Ning ;

Tsai, Fuu-Jen ;

Wu, Pei-Chen ;

Town, Dai-Dyi ;

Chen, Li-Feng ;

Lee, Meng-Shan ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (01) :93-99

[10] Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations [J].

Chen, Chih-Ping ;

Su, Yi-Ning ;

Lin, Shin-Yu ;

Chang, Chih-Long ;

Wang, Yeou-Lih ;

Huang, Jiau-Pei ;

Chen, Chen-Yu ;

Hung, Fang-Yu ;

Chen, Yi-Yung ;

Wu, Pei-Chen ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2011, 50 (01) :85-94

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