Back to Search
Start Over
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2010 Aug; Vol. 152A (8), pp. 1933-41. - Publication Year :
- 2010
-
Abstract
- The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with autistic spectrum disorders (ASD) and varying degrees of mental retardation. The clinical variability appears to be influenced by the parental origin of the duplication. We present here the clinical evaluation and psychological assessment of the largest reported family with 12 carriers on three generations. Patients exhibit mental retardation, motor and visuo-motor skills impairments and adaptive functioning deficit without formal diagnosis of autism. There appeared to be evidence in the family of reduced penetrance in duplication of paternal origin. This familial 15q11q13 duplication was precisely investigated by cytogenetic and molecular techniques including fluorescence in situ hybridization (FISH), PCR analysis of microsatellite markers, array-comparative genomic hybridization analysis (Array-CGH) and semi-quantitative methylation-sensitive PCR. Results showed an inherited 15q11q13 duplication of maternal origin in 10 patients and of paternal origin in the remaining two. The size of the duplicated area was around 6 Mb with breakpoints in accordance with those previously reported. This report extends the clinical spectrum of the 15q11q13 duplication, and we recommend the investigation of 15q11q13 duplication not only in subjects with autistic spectrum disorder but also in patients with low normal intelligence and dyspraxia.
- Subjects :
- Adolescent
Angelman Syndrome pathology
Angelman Syndrome psychology
Autistic Disorder pathology
Autistic Disorder psychology
Child
Child, Preschool
Comparative Genomic Hybridization
DNA Methylation
Female
Genomic Imprinting
Humans
In Situ Hybridization, Fluorescence
Infant
Intellectual Disability pathology
Intellectual Disability psychology
Male
Oligonucleotide Array Sequence Analysis
Pedigree
Phenotype
Polymerase Chain Reaction
Prader-Willi Syndrome pathology
Prader-Willi Syndrome psychology
Psychometrics
Angelman Syndrome genetics
Autistic Disorder genetics
Chromosomes, Human, Pair 15 genetics
Gene Duplication
Intellectual Disability genetics
Prader-Willi Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 152A
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 20635369
- Full Text :
- https://doi.org/10.1002/ajmg.a.33521