Congenital cataract with de novo balanced reciprocal t(3;13) (q23;q12) translocation in a newborn

被引：2

作者：

Dilli, Dilek ^{[1
]}

Oguz, Serife Suna ^{[1
]}

Dilmen, Ugur ^{[1
]}

Cakar, Esra Sukran ^{[2
]}

Tunay, Zuhal Ozen ^{[3
]}

Tok, Ozlem ^{[4
]}

Acar, M. Akif ^{[4
]}

机构：

[1] Zekai Tahir Burak Matern Hosp, Minist Hlth, Dept Neonatol, Ankara, Turkey

[2] Zekai Tahir Burak Matern Hosp, Minist Hlth, Dept Med Genet, Ankara, Turkey

[3] Zekai Tahir Burak Matern Hosp, Minist Hlth, Dept Ophtalmol, Ankara, Turkey

[4] Ankara Numune Training & Res Hosp, Minist Hlth, Ankara, Turkey

来源：

JOURNAL OF PERINATAL MEDICINE | 2009年 / 37卷 / 06期

关键词：

Congenital cataract; chromosome; reciprocal translocations; IN-SITU HYBRIDIZATION;

D O I：

10.1515/JPM.2009.104

中图分类号：

R71 [妇产科学];

学科分类号：

100211 [妇产科学];

摘要：

引用

页码：717 / 719

页数：3

共 8 条

[1]

Cohen O, 1996, HUM GENET, V97, P659

[2]

Childhood blindness in India: a population based perspective [J].

Dandona, R ;

Dandona, L .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2003, 87 (03) :263-265

[3]

The meiotic segregation pattern of a reciprocal translocation t(10;12)(q26.1;p13.3) by fluorescence in situ hybridization sperm analysis [J].

Estop, AM ;

Cieply, KM ;

Aston, CE .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1997, 5 (02) :78-82

[4]

A nationwide Danish study of 1027 cases of congenital/infantile cataracts - Etiological and clinical classifications [J].

Haargaard, B ;

Wohlfahrt, J ;

Fledelius, HC ;

Rosenberg, T ;

Melbye, M .

OPHTHALMOLOGY, 2004, 111 (12) :2292-2298

[5]

A new locus for dominant ''zonular pulverulent'' cataract, on chromosome 13 [J].

Mackay, D ;

Ionides, A ;

Berry, V ;

Moore, A ;

Bhattacharya, S ;

Shiels, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) :1474-1478

[6]

Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11->q12 and mouse chromosome 14D1-E1 by in situ hybridization [J].

Mignon, C ;

Fromaget, C ;

Mattei, MG ;

Gros, D ;

Yamasaki, H ;

Mesnil, M .

CYTOGENETICS AND CELL GENETICS, 1996, 72 (2-3) :185-186

[7]

Rahi JS, 2001, INVEST OPHTH VIS SCI, V42, P1444

[8]

Zafer E, 2008, MOL VIS, V14, P530

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