Format

Send to

Choose Destination
See comment in PubMed Commons below
J Med Genet. 2008 Jun;45(6):396-9. doi: 10.1136/jmg.2007.057059. Epub 2008 May 12.

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.

Abstract

Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised mainly by intrauterine and postnatal growth retardation. While maternal uniparental disomy of chromosome 7 is found in 5-10% of SRS patients, recently genetic and epigenetic mutations affecting the imprinting centres on chromosome 11p15 have been reported in up to 64% of patients. Chromosome 11p15 abnormalities reported in SRS include methylation defects in the imprinting centre 1 (ICR1) and maternally inherited duplications involving all or part of the imprinted region of 11p15. Here we report the first published case of SRS with mosaic maternal uniparental disomy of chromosome 11.

PMID:
18474587
DOI:
10.1136/jmg.2007.057059
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Support Center