Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

Détails

ID Serval
serval:BIB_F8E9768D0905
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
Subtelomeric rearrangements detected in patients with idiopathic mental retardation.
Périodique
American Journal of Medical Genetics
Auteur(s)
Anderlid B.M., Schoumans J., Annerén G., Sahlén S., Kyllerman M., Vujic M., Hagberg B., Blennow E., Nordenskjöld M.
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Statut éditorial
Publié
Date de publication
2002
Volume
107
Numéro
4
Pages
275-284
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
A screening for submicroscopic rearrangements was performed in 111 patients with idiopathic mental retardation (MR) using fluorescence in situ hybridization (FISH) probes from the subtelomeric regions of all chromosome arms. Ten cryptic rearrangements were found (9%): five de novo deletions; one unbalanced de novo translocation; three unbalanced inherited translocations; and one unbalanced recombinant chromosome, inherited from a parent with a pericentric inversion. In addition, 50 of the patients were screened for interstitial rearrangements with spectral karyotyping (SKY), but no aberrations were found. However, SKY detected the subtelomeric rearrangement in three of the four unbalanced translocations. Dysmorphic features were present in all patients with detected subtelomeric rearrangements.
Mots-clé
Adolescent, Adult, Child, Child, Preschool, Chromosome Aberrations, Chromosome Painting, DNA Probes, Female, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Infant, Karyotyping, Male, Mental Retardation/etiology, Mental Retardation/genetics, Middle Aged, Telomere
Pubmed
Web of science
Création de la notice
17/09/2011 11:03
Dernière modification de la notice
03/03/2018 22:53
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