PT  - JOURNAL ARTICLE
AU  - Moncla, A
AU  - Livet, M O
AU  - Auger, M
AU  - Mattei, J F
AU  - Mattei, M G
AU  - Giraud, F
TI  - Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
AID  - 10.1136/jmg.28.9.627
DP  - 1991 Sep 01
TA  - Journal of Medical Genetics
PG  - 627--632
VI  - 28
IP  - 9
4099  - http://jmg.bmj.com/content/28/9/627.short
4100  - http://jmg.bmj.com/content/28/9/627.full
SO  - J Med Genet1991 Sep 01; 28
AB  - 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.