Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions

被引:13
作者
Bruyere, H
Rajcan-Separovic, E
Doyle, J
Pantzar, T
Langlois, S
机构
[1] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V5Z 1M9, Canada
[2] Vernon Jubilee Hosp, Dept Pathol, Vernon, BC, Canada
[3] Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada
来源
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 123A卷 / 03期
关键词
recurrent spontaneous abortions; stillbirth; subtelomic translocation; monosomy; 2q37.2-qter; trisomy; 17q25-qter;
D O I
10.1002/ajmg.a.20228
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report a young woman who presented with a reproductive history of three recurrent spontaneous abortions (RSA) and two neonatal deaths. Comparative genomic hybridization (CGH) was used to determine the chromosomal composition of the patient's last miscarriage. It showed the presence of monosomy for the distal end of chromosome 2 long arm (segment 2q37.2 to qter) and trisomy for the distal end of chromosome 17 long arm (segment 17q25 to qter). The mother was found to be a carrier for a cryptic translocation between chromosomes 2 and 17 long arms by fluorescence in situ hybridization using a subtelomeric probe for 17q. Retrospective CGH analysis on one baby who died neonatally showed that he had inherited the maternal translocation in the same unbalanced state as the last pregnancy loss. His detailed postmortem examination is reported. (C) 2003 Wiley-Liss, Inc.
引用
收藏
页码:285 / 289
页数:5
相关论文
共 27 条
[1]   Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes [J].
Angle, B ;
Yen, F ;
Hersh, JH ;
Gowans, G ;
Barch, M .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 111 (03) :307-312
[2]   Lack of submicroscopic rearrangements involving telomeres in reproductive failures [J].
Benzacken, B ;
Carbillon, L ;
Dupont, C ;
Siffroi, JP ;
Monier-Gavelle, F ;
Bucourt, M ;
Uzan, M ;
Wolf, JP .
HUMAN REPRODUCTION, 2002, 17 (05) :1154-1157
[3]   A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay [J].
Brown, J ;
Jawad, M ;
Twigg, SRF ;
Saracoglu, K ;
Sauerbrey, A ;
Thomas, AE ;
Eils, R ;
Harbott, J ;
Kearney, L .
BLOOD, 2002, 99 (07) :2526-2531
[4]  
CONRAD B, 1995, CLIN GENET, V48, P134
[5]   Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization [J].
Daniely, M ;
Aviram-Goldring, A ;
Barkai, G ;
Goldman, B .
HUMAN REPRODUCTION, 1998, 13 (04) :805-809
[6]   CYTOGENETIC STUDIES IN COUPLES EXPERIENCING REPEATED PREGNANCY LOSSES [J].
DEBRAEKELEER, M ;
DAO, TN .
HUMAN REPRODUCTION, 1990, 5 (05) :519-528
[7]   Subtelomeric translocations are not a frequent cause of recurrent miscarriages [J].
Fan, YS ;
Zhang, Y .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (02) :154-154
[8]   SMALL TERMINAL DELETIONS OF THE LONG ARM OF CHROMOSOME-2 - 2 NEW CASES [J].
FISHER, AM ;
ELLIS, KH ;
BROWNE, CE ;
BARBER, JCK ;
BARKER, M ;
KENNEDY, CR ;
FOLEY, H ;
PATTON, MA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 53 (04) :366-369
[9]   THE DETECTION OF SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS IN IDIOPATHIC MENTAL-RETARDATION [J].
FLINT, J ;
WILKIE, AOM ;
BUCKLE, VJ ;
WINTER, RM ;
HOLLAND, AJ ;
MCDERMID, HE .
NATURE GENETICS, 1995, 9 (02) :132-140
[10]  
Fritz B, 2000, AM J MED GENET, V94, P271, DOI 10.1002/1096-8628(20001002)94:4<271::AID-AJMG2>3.0.CO