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

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 ove...

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Bibliographic Details
Published in:Journal of medical genetics 1991-09, Vol.28 (9), p.627-632
Main Authors: Moncla, A, Livet, M O, Auger, M, Mattei, J F, Mattei, M G, Giraud, F
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Cells, Cultured
Child Behavior Disorders - genetics
Child, Preschool
chromosome 17
Chromosome aberrations
Chromosome Aberrations - genetics
Chromosome Aberrations - pathology
Chromosome Banding
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 17 - ultrastructure
deletion
Face - abnormalities
Female
Hand Deformities, Congenital - genetics
Humans
Intellectual Disability - genetics
Lymphocytes - ultrastructure
Male
Medical genetics
Medical sciences
Phenotype
Syndrome
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.28.9.627