Document Detail


Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
MedLine Citation:
PMID:  10861719     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
S Fert-Ferrer; A Guichet; J Tantau; A L Delezoide; C Ozilou; S P Romana; P Gosset; G Viot; S Loison; C Moraine; N Morichon-Delvallez; C Turleau; M Vekemans; M Prieur
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  20     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2000 Jun 
Date Detail:
Created Date:  2000-07-28     Completed Date:  2000-07-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  511-5     Citation Subset:  IM    
Copyright Information:
Copyright 2000 John Wiley & Sons, Ltd.
Affiliation:
Service de Cytogénétique, Hôpital Necker Enfants Malades, 149, rue de Sèvres, F 75743 Paris Cedex 15, France.
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniocentesis
Beckwith-Wiedemann Syndrome / genetics*
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 8*
Female
Gestational Age
Humans
Hydrops Fetalis / genetics
In Situ Hybridization, Fluorescence
Karyotyping
Male
Pregnancy
Translocation, Genetic*
Ultrasonography, Prenatal

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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