These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Autistic disorder and 22q11.2 duplication.
    Author: Mukaddes NM, Herguner S.
    Journal: World J Biol Psychiatry; 2007; 8(2):127-30. PubMed ID: 17455106.
    Abstract:
    Although several reports have described the co-occurrence of autism in subjects with chromosome 22 abnormalities including trisomy 22, translocation 20/22, 22q11.2 deletion, ring chromosome 22, and 22q13.3 deletion, there is no report with 22q11.2 duplication. We report a 9-year-old girl, referred to our department for her behavioural problems and language delay. She was diagnosed with autistic disorder according to DSM-IV criteria. Because of her dysmorphic characteristics comprising narrow face, narrow forehead, mandibular prognathism, synophrys, and operated cleft palate and cardiac problems, she had gone under cytogenetic analysis. Although she was ascertained as suspected velocardiofacial syndrome (VCFS), the duplication of 22q11.2 was detected by interphase fluorescence in situ hybridization. Previous reports on the psychiatric aspects of 22q11.2 duplication have shown the existence of hyperactivity, learning disability, speech problems, and aggressive behaviours but not autism. Moreover, the lack of reports of co-occurrence of autism and 22q11.2 duplication may be related to paucity as a result of technical problems.
    [Abstract] [Full Text] [Related] [New Search]