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Smith-Magenis syndrome: a new contiguous gene syndrome Report of three new cases Moncla A; Livet MO; Auger M; Mattei JF; Mattei MG; Giraud FJ Med Genet 1991[Sep]; 28 (9): 627-32Interstitial 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.|*Chromosome Deletion[MESH]|Abnormalities, Multiple/*genetics[MESH]|Cells, Cultured[MESH]|Child Behavior Disorders/*genetics[MESH]|Child, Preschool[MESH]|Chromosome Aberrations/*genetics/pathology[MESH]|Chromosome Banding[MESH]|Chromosome Disorders[MESH]|Chromosomes, Human, Pair 17/*ultrastructure[MESH]|Face/*abnormalities[MESH]|Female[MESH]|Hand Deformities, Congenital/genetics[MESH]|Humans[MESH]|Intellectual Disability/*genetics[MESH]|Lymphocytes/ultrastructure[MESH]|Male[MESH]|Phenotype[MESH]|Syndrome[MESH] |
