Format

Send to:

Choose Destination
See comment in PubMed Commons below
Neuropediatrics. 2009 Jun;40(3):137-40. doi: 10.1055/s-0029-1237724. Epub 2009 Dec 17.

Association of syndromic mental retardation and autism with 22q11.2 duplication.

Author information

  • 1Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy. a.locastro@libero.it

Abstract

We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is very heterogeneous, with high variability also in the familiar cases. Up till now, about 50 cases of 22q11.2 duplication have been reported, but only three of them are associated with autistic disorders. We propose that in addition to 22q13.3 deletion syndrome, also 22q11.2 duplication should be suspected in a patient with unspecified dysmorphisms, mental retardation, autism, hypotonia, and severe speech delay.

PMID:
20020400
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Georg Thieme Verlag Stuttgart, New York
    Loading ...
    Write to the Help Desk