A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.

Détails

ID Serval
serval:BIB_078F653B401C
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Gimelli S., Chrast J., Baban A., Henrichsen C.N., Lerone M., Zuffardi O., Gimelli G., Reymond A.
ISSN
1552-4833[electronic], 1552-4825[linking]
Statut éditorial
Publié
Date de publication
2010
Peer-reviewed
Oui
Volume
152A
Numéro
5
Pages
1285-1294
Langue
anglais
Résumé
The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease-causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive associated with moderate mental retardation, facial anomalies, and chronic constipation. The localization of the breakpoints and the co-occurrence of Williams-Beuren syndrome and 12q14 microdeletion syndrome phenotypes suggested that the expression of some of the dosage-sensitive genes of these two segmental aneuploidies were modified in cells of the proposita. However, we were unable to identify chromosomes 7 and/or 12-mapping genes that showed disturbed expression in the lymphoblastoids of the proposita. This case showed that position-effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements.
Mots-clé
Cell Line, Chromosome Banding, Chromosome Breakage, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 12/genetics, Chromosomes, Human, Pair 7/genetics, Comparative Genomic Hybridization, Female, Humans, Infant, Infant, Newborn, Karyotyping, Pregnancy, Translocation, Genetic, Williams Syndrome/genetics
Pubmed
Web of science
Création de la notice
12/11/2010 19:36
Dernière modification de la notice
03/03/2018 13:28
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