An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

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Publication year
2009Source
European Journal of Medical Genetics, 52, 5, (2009), pp. 353-357ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
European Journal of Medical Genetics
Volume
vol. 52
Issue
iss. 5
Page start
p. 353
Page end
p. 357
Subject
IGMD 3: Genomic disorders and inherited multi-system disordersAbstract
Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before. The deletions were overlapping by 8.35 Mb (8q24.21q24.23). The clinical features shared by our patients were coloboma, VSD, digital abnormalities, congenital dislocation of a hip, feeding problems, psychomotor delay and convulsions. The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only. However, she is too young to present features of this syndrome, apart from dysmorphic features like a bulbous nose and notched alae nasi. Several genes are present in the commonly deleted region, including genes with unknown function, and genes for which haploinsufficiency is known to have no phenotypic effect in mice (Wnt1). A gene that might play a role in the convulsions of our patients is KCNQ3.
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- Academic publications [204951]
- Electronic publications [103216]
- Faculty of Medical Sciences [81049]
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