A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.
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Publication year
2006Source
Clinical Dysmorphology, 15, 3, (2006), pp. 133-7ISSN
Publication type
Article / Letter to editor
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Organization
Anesthesiology
Human Genetics
Dermatology
Journal title
Clinical Dysmorphology
Volume
vol. 15
Issue
iss. 3
Page start
p. 133
Page end
p. 7
Subject
DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; NCMLS 6: Genetics and epigenetic pathways of disease; ONCOL 3: Translational research; UMCN 5.1: Genetic defects of metabolismAbstract
We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.
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- Academic publications [238586]
- Electronic publications [122804]
- Faculty of Medical Sciences [90409]
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