![]() However, these recognized conditions explain only a small fraction of the observed prevalence of autism, currently estimated to be as high as 3 in 1,000 (Yeargin-Allsopp et al. Cases of autism may occur in conjunction with chromosomal anomalies, such as duplications on the long arm of chromosome 15q11-13, Rett syndrome (MIM 300005), and fragile-X syndrome (MIM 309550). First described in 1943 (Kanner 1943), it is characterized by impairments in language and nonverbal communication, deficits in reciprocal social interactions, and the presence of restricted and repetitive behaviors. Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21.Īutism (MIM 209850) is a lifelong neuropsychiatric condition with onset in early childhood. Taken together, these samples provide a replication of linkage to this chromosome region that is, to our knowledge, the first such replication in autism. ![]() ![]() Here, we report a full-genome scan of an independent sample of 91 AGRE families with 109 affected sibling pairs (AGRE_2) that also shows the strongest evidence of linkage to 17q11-17q21 in families with no affected females. A genome scan of 345 families from the Autism Genetic Resource Exchange (AGRE) (AGRE_1), gave the strongest evidence of linkage at 17q11-17q21 in families with no affected females. As with many genetically complex disorders, numerous genome scans reveal inconsistent results. Autism is a heritable but genetically complex disorder characterized by deficits in language and in reciprocal social interactions, combined with repetitive and stereotypic behaviors.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |