Article
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
Journal of medical genetics - 1 Sept 1991
Moncla A, Livet M O, Auger M, Mattei J F, Mattei M G, Giraud F
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Cells, Cultured
- Child Behavior Disorders
- Child, Preschool
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 17
- Face
- Female
- Hand Deformities, Congenital
- Humans
- Intellectual Disability
- Lymphocytes
- Male
- Phenotype
- Syndrome