De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly

被引：26

作者：

Aboura, A ^{[1
]}

Coulomb-L'Herminé, A ^{[1
]}

Audibert, F ^{[1
]}

Capron, F ^{[1
]}

Frydman, R ^{[1
]}

Tachdjian, G ^{[1
]}

机构：

[1] Hop Antoine Beclere, Serv Biol & Genet Reprod, F-92140 Clamart, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 108卷 / 02期

关键词：

camptodactyly; comparative genomic hybridization; duplication; Pierre Robin sequence; prenatal diagnosis; trisomy; 1q;

D O I：

10.1002/ajmg.10219

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Interstitial duplications of chromosomal region 1q are rarely seen. We report the first prenatal diagnosis of pure partial trisomy 1q. The fetus was karyotyped for polyhydramnios, micrognathia, and flexion of fingers of both hands. Conventional and molecular cytogenetics showed a de novo 1 direct duplication of the chromosomal region 1q23.1q31.1 leading to a partial trisomy 1q. At autopsy, the fetus showed Pierre Robin sequence (PRS) and camptodactyly. The main histological finding was a decreased number of motoneurons with apoptotic features in the anterior horn of the spinal cord. A literature review and our observations suggest that genetic material mapping to chromosome 1q25 could be responsible for PRS with distal arthrogryposis when this is in triple dose. (C) 2002 Wiley-Liss, Inc.

引用

页码：153 / 159

页数：7

共 45 条

[1] CONFIRMATION OF PROXIMAL 1Q DUPLICATION USING FLUORESCENCE IN-SITU HYBRIDIZATION [J].

CHEN, H ;

KUSYK, CJ ;

TUCKMULLER, CM ;

MARTINEZ, JE ;

DORAND, RD ;

WERTELECKI, W .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (01) :28-31

[2]

CHIA NL, 1988, CLIN GENET, V34, P224

[3]

Clark M, 1989, Decubitus, V2, P34

[4]

Cohen MM, 1999, AM J MED GENET, V84, P311

[5]

COULY G, 1988, ARCH FR PEDIATR, V45, P553

[6] Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: Further delineation of the trisomy 1q syndrome [J].

Duba, HC ;

Erdel, M ;

Loffler, J ;

Bereuther, L ;

Fischer, H ;

Utermann, B ;

Utermann, G .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) :309-313

[7] PRENATAL-DIAGNOSIS OF PARTIAL TRISOMY 1Q USING FLUORESCENT IN-SITU HYBRIDIZATION [J].

DUPONT, BR ;

HUFF, RW ;

RIDGWAY, LE ;

STRATTON, RF ;

MOORE, CM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (01) :21-27

[8]

Fan YS, 1999, AM J MED GENET, V86, P118, DOI 10.1002/(SICI)1096-8628(19990910)86:2<118::AID-AJMG6>3.0.CO

[9]

2-S

[10]

FLATZ S, 1979, CLIN GENET, V15, P541

← 1 2 3 4 5 →