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A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
- Source :
-
PloS one [PLoS One] 2010 Aug 27; Vol. 5 (8), pp. e12462. Date of Electronic Publication: 2010 Aug 27. - Publication Year :
- 2010
-
Abstract
- Background: Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.<br />Methodology/principal Findings: We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.<br />Conclusions/significance: Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4 and KCNQ2 and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.
- Subjects :
- Behavioral Symptoms genetics
Behavioral Symptoms physiopathology
Child
Child, Preschool
Developmental Disabilities genetics
Developmental Disabilities physiopathology
Female
Genotype
Humans
Intellectual Disability genetics
Intellectual Disability physiopathology
Language Disorders genetics
Language Disorders physiopathology
Male
Oligonucleotide Array Sequence Analysis
Seizures genetics
Seizures physiopathology
Speech Disorders genetics
Speech Disorders physiopathology
Chromosome Deletion
Chromosomes, Human, Pair 20 genetics
Phenotype
Subjects
Details
- Language :
- English
- ISSN :
- 1932-6203
- Volume :
- 5
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- PloS one
- Publication Type :
- Academic Journal
- Accession number :
- 20805988
- Full Text :
- https://doi.org/10.1371/journal.pone.0012462