An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Détails

ID Serval
serval:BIB_480DD6456E2F
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
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
Périodique
European Journal of Medical Genetics
Auteur⸱e⸱s
Bremer A., Schoumans J., Nordenskjöld M., Anderlid B.M., Giacobini M.
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Statut éditorial
Publié
Date de publication
2009
Volume
52
Numéro
5
Pages
358-362
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Résumé
Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. Here, we report a patient with a 7.1Mb interstitial deletion of chromosome band 6p22.3, detected by genome-wide screening array CGH. The patient is a 4-year-old girl with developmental delay and dysmorphic features including eye abnormalities, short neck, and a ventricular septum defect. The deleted region at 6p22.3 in our patient overlaps with six out of the seven previously reported cases with a 6p22-24 interstitial deletion. This enabled us to further narrow down the critical region for the 6p22 deletion phenotype to 2.2Mb. Twelve genes are mapped to the overlapping deleted region, among them the gene encoding the ataxin-1 protein, the ATXN1 gene. Mice with homozygous deletions in ATXN1 are phenotypically normal but show cognitive delay. Haploinsufficiency of ATXN1 may therefore contribute to the learning difficulties observed in the patients harboring a 6p22 deletion.
Mots-clé
Abnormalities, Multiple/genetics, Case-Control Studies, Child, Preschool, Chromosome Banding, Chromosome Breakage, Chromosome Deletion, Chromosomes, Human, Pair 6, Comparative Genomic Hybridization, DNA/genetics, Developmental Disabilities/genetics, Eye, Female, Heart Defects, Congenital/genetics, Humans, In Situ Hybridization, Fluorescence, Metaphase, Physical Chromosome Mapping, Reference Standards, Sweden
Pubmed
Web of science
Création de la notice
31/10/2013 18:14
Dernière modification de la notice
20/08/2019 14:54
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