Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Med Genet A. 2005 Jul 1;136(1):12-6.

Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region.

Author information

1
Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand.

Abstract

Recent reports of patients with interstitial deletions involving the long arm of chromosome 12 have led to the proposal of a candidate region for the cardio-facio-cutaneous syndrome (CFCS) at (12)(q21.2q22). We now report a patient with an interstitial deletion, del(12)(q21.1q21.3) that overlaps the proposed critical region. The patient is an 11-year-old female with developmental delay. Her growth was normal but she is microcephalic with low set ears. In common with other patients with deletions in this region, she had fine, sparse head and eyebrow hair and a hyperkeratotic follicular rash, which involved her face and limbs. She does not have the diagnostic features of the CFC syndrome.

PMID:
15889419
DOI:
10.1002/ajmg.a.30693
[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