Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.

Détails

ID Serval
serval:BIB_7E905F14CAE4
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Martinet D., Vial Y., Thonney F., Beckmann J.S., Meagher-Villemure K., Unger S.
ISSN
1552-4825
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
140
Numéro
7
Pages
769-774
Langue
anglais
Notes
Case Reports
Résumé
We report on a 24-week fetus with multiple organ anomalies secondary to biparental inheritance of an apparently balanced t(17;20) reciprocal translocation. The pregnancy was terminated following the discovery by ultrasound of an abnormal heart and micrognathia. At autopsy, the following anomalies were found: Pierre-Robin sequence, hypoplasia of the right ventricle with muscular hypertrophy, and endocardial fibroelastosis, hypoplastic lungs, dysplastic left kidney, bilateral pelvicalyceal dilatation, central nervous system periventricular heterotopias and right sided club foot. Given the endocardial fibroelastosis and cleft palate, Eastman-Bixler syndrome (Facio-cardio-renal) is a possible diagnosis. The parents were first cousins and each had an identical t(17;20)(q21.1;p11.21) translocation. The fetal karyotype was 46,XX,t(17;20)(q21.1;p11.21)mat,t(17;20)(q21.1;p11.21)pat. While there are a few reports of consanguineous families where both the mother and father had the same reciprocal translocation and offspring with unbalanced karyotypes, we were unable to find any reports of a fetus/child with double identical reciprocal translocations. We propose that although the fetus had an apparently balanced karyotype, inheriting only the translocated chromosomes led to the unmasking of a recessive syndrome. It seems most likely that a gene (or genes) was disrupted by the breaks but the parents might also be heterozygous carriers of a recessive gene mutation since the fetus must be homozygous by descent for many loci on both chromosomes 17 and 20 (as well as on other chromosomal segments). It was not possible to totally exclude segmental uniparental disomy as a cause of the anomalies as no recombinations were detected for chromosome 17. However, there is no evidence to suggest that chromosome 17 is imprinted and UPD 20 was excluded thus making an imprinting error unlikely.
Mots-clé
Abnormalities, Multiple, Abortion, Eugenic, Chromosome Banding, Chromosomes, Human, Pair 17, Chromosomes, Human, Pair 20, Consanguinity, Face, Female, Fetal Death, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Micrognathism, Pedigree, Translocation, Genetic
Pubmed
Web of science
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
03/03/2018 18:41
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