Article
Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).
Psychiatric genetics - 1 Jan 1995
Bolton P, Powell J, Rutter M, Buckle V, Yates J R, Ishikawa-Brush Y, Monaco A P
Abstract excerpt
A young adult female with multiple exostoses, short stature, autism, mental retardation and 46,X,t(X;8)(p22.13;q22.1) is described. Although the clinical features and translocation breakpoints raise the possibility of a number of specific conditions, the constellation of problems is not consistent with any previously reported genetic syndrome. It is argued that her clinical disorder is likely due to the...
Topics
- Abnormalities, Multiple
- Adult
- Asphyxia Neonatorum
- Autistic Disorder
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 8
- Dwarfism
- Exostoses, Multiple Hereditary
- Female
- Hematoma, Subdural