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Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
  1. A Moncla,
  2. M O Livet,
  3. M Auger,
  4. J F Mattei,
  5. M G Mattei,
  6. F Giraud
  1. INSERM 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.

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