Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism
نویسندگان
چکیده
منابع مشابه
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
BACKGROUND Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to asses...
متن کاملGenetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism.
253 Autism is a neuropsychiatric disorder that exhibits high heritability and is considered to have a complex genetic etiology. A sibling of a child with autism has a 25 to 50 times greater risk for developing autism than someone in the general population. Autism displays both clinical and genetic heterogeneity, as reviewed in last month’s column. A different set of genes may confer risk in dif...
متن کاملAutism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.
New insights into biological factors that underlie autism may be gained by comparing autism to other neurodevelopmental disorders that have autistic features and relatively well-delineated genetic etiologies or neurobiological findings. This review moves beyond global diagnoses of autism and instead uses an endophenotypic approach to compare specific clusters of autistic symptomatology to featu...
متن کاملCharacterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
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...
متن کاملLarge genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo interstitial deletion of chromosome 15q11-q13. Deletions and other recurrent rearrangements of this region involve four common 'hotspots' for breakage, termed breakpoints 1-4 (BP1-BP4). Construction of an approximately 4 Mb YAC contig of this region identified multiple sequence tagged sites (STSs) present at bot...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
سال: 2008
ISSN: 1552-4841,1552-485X
DOI: 10.1002/ajmg.b.30733