A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

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ID Serval
serval:BIB_76CE809AA930
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Production externe
Titre
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Périodique
Nature Genetics
Auteur⸱e⸱s
Koolen D.A., Vissers L.E., Pfundt R., de Leeuw N., Knight S.J., Regan R., Kooy R.F., Reyniers E., Romano C., Fichera M., Schinzel A., Baumer A., Anderlid B.M., Schoumans J., Knoers N.V., van Kessel A.G., Sistermans E.A., Veltman J.A., Brunner H.G., de Vries B.B.
ISSN
1061-4036 (Print)
ISSN-L
1061-4036
Statut éditorial
Publié
Date de publication
2006
Volume
38
Numéro
9
Pages
999-1001
Langue
anglais
Notes
Publication types: Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish. PDF tjype: Brief Communication
Résumé
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.
Mots-clé
Adolescent, Adult, Brain/abnormalities, Brain/radiography, Child, Preschool, Chromosome Deletion, Chromosome Inversion, Chromosomes, Human, Pair 17, Cohort Studies, Face/pathology, Female, Gene Dosage, Gene Frequency, Haplotypes, Humans, Magnetic Resonance Imaging, Male, Mental Retardation/epidemiology, Mental Retardation/genetics, Muscle Hypotonia/genetics, Muscle Hypotonia/physiopathology, Physical Chromosome Mapping, Polymorphism, Genetic, Prevalence, Receptors, Corticotropin-Releasing Hormone/genetics, Syndrome, tau Proteins/genetics
DOI
10.1038/ng1853
Pubmed
16906164
Web of science
000240112100015
Création de la notice
17/09/2011 10:29
Dernière modification de la notice
20/08/2019 15:33
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