Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
Prenat Diagn
; 20(6): 511-5, 2000 Jun.
Article
in En
| MEDLINE
| ID: mdl-10861719
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Translocation, Genetic
/
Beckwith-Wiedemann Syndrome
/
Chromosomes, Human, Pair 8
/
Chromosomes, Human, Pair 11
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
En
Journal:
Prenat Diagn
Year:
2000
Document type:
Article
Affiliation country:
France