Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

doi:10.1007/s10803-006-0225-8

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Article

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Journal of autism and developmental disorders - 1 Apr 2007

Kwasnicka-Crawford Dorota A, Roberts Wendy, Scherer Stephen W

Abstract excerpt

Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language. The karyotype was...

Topics

Alleles
Angelman Syndrome
Autistic Disorder
Child
Chromosome Banding
Chromosome Mapping
Chromosomes, Human, Pair 15
Developmental Disabilities
Female
Gene Duplication
Genetic Markers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Humans

In Situ Hybridization, Fluorescence

Karyotyping

Language Development Disorders

Microsatellite Repeats

Personality Assessment

Source

Open in PubMed

Identifiers

PMID: 17006779
DOI: 10.1007/s10803-006-0225-8

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