Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Genet. 1998 Mar;53(3):223-5.

Normal growth in Angelman syndrome due to paternal UPD.

Author information

1
Department of Cytogenetics, Royal Alexandra Hospital for Children, Westmead, NSW, Australia. ellies@nch.edu.au

Abstract

We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy disposition with outbursts of laughter. Ataxia is minimal in both patients, manifesting mainly when they are excited or running. Both patients are tall (height around 90th percentile), have a head circumference around 75th percentile and are overweight (weight over the 97th percentile). These cases add to the knowledge of the possibility of normal or increased growth parameters, particularly weight, in AS when the genetic mechanism is paternal UPD.

PMID:
9630080
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Support Center