Article
Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.
Annales de genetique - 1 Jan 1992
Quack B, Van Roy N, Verschraegen-Spae M R, Klein F
Abstract excerpt
A small supernumerary ring chromosome has been found in a boy with overweight, dysmorphic facies and mental retardation. His mother had an interstitial deletion of the long arm of chromosome 19 and the same ring chromosome. By means of fluorescence in situ hybridization the ring chromosome was sh...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 19
- Face
- Humans
- Intellectual Disability
- Karyotyping
- Language Disorders
- Male
- Obesity
- Phenotype
- Ring Chromosomes
- Trisomy