Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features
- 9 June 2000
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 20 (6) , 511-515
- https://doi.org/10.1002/1097-0223(200006)20:6<511::aid-pd849>3.0.co;2-b
Abstract
We describe a subtle translocation t(8;11)(p23.2;p15.5) ascertained after two induced abortions in the same sibship because of the discovery of fetal hydrops on ultrasound examination. Initial cytogenetic studies performed on cultured amniotic fluid cells were considered as normal in both fetuses. High resolution banding analysis and FISH studies performed on the parents' chromosomes revealed a paternal translocation t(8;11)(p23.2;p15.5). Retrospective FISH analysis of both fetuses showed that they carried the same chromosomal imbalance including a distal monosomy 8pter and a distal trisomy 11pter. The phenotypes of the fetuses were re‐examined and found to be compatible with Beckwith–Wiedemann syndromes (BWS). FISH analysis using an IGF2 probe demonstrated the presence of three copies of the IGF2 gene. This study highlights the value of searching for subtle chromosome rearrangements in families with recurrent unexplained multiple malformation syndromes discovered prenatally. Also, it contributes to a better delineation of the prenatal phenotype of BWS. Finally, it sheds new light on the aetiology of non‐immune hydrops fetalis. Copyright © 2000 John Wiley & Sons, Ltd.Keywords
This publication has 14 references indexed in Scilit:
- Molecular genetics of Wiedemann-Beckwith syndromeAmerican Journal of Medical Genetics, 1998
- Transactivation of Igf2 in a mouse model of Beckwith–Wiedemann syndromeNature, 1997
- A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8American Journal of Medical Genetics, 1997
- Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndromeNature, 1997
- Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apesCytogenetic and Genome Research, 1997
- An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndromeNature Genetics, 1996
- Nonimmune fetal hydrops and placentomegaly: Diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISHAmerican Journal of Medical Genetics, 1996
- Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardationAmerican Journal of Medical Genetics, 1996
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationNature Genetics, 1995
- A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genesCytogenetic and Genome Research, 1992