Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Med Genet. 1991 Sep;28(9):627-32.

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Author information

  • 1INSERM U242, Hôpital d'Enfants de la Timone, Marseille, France.

Abstract

Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this microdeletion is not particularly rare. Comparison of the clinical and cytogenetic findings in a total of 24 patients allows a new contiguous gene syndrome to be defined that only high resolution analysis can detect. In two cases, molecular analysis confirmed the cytogenetic results. The Charcot-Marie-Tooth type Ia gene has recently been localised to the 17p11.2 sub-band.

PMID:
1956064
[PubMed - indexed for MEDLINE]
PMCID:
PMC1015796
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk