Article
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
American journal of medical genetics - 1 Mar 1996
Rogan P K, Seip J R, Driscoll D J, Papenhausen P R, Johnson V P, Raskin S, Woodward A L, Butler M G
Abstract excerpt
Individuals with a ring 15 chromosome [r(15)] and those with Russell-Silver syndrome have short stature, developmental delay, triangular face, and clinodactyly. To assess whether the apparent phenotypic overlap of these conditions reflects a common genetic cause, the extent of deletions in chromo...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- Female
- Gene Dosage
- Genotype
- Growth Disorders
- Humans
- Infant
- Male
- Pedigree
- Receptor, IGF Type 1
- Ring Chromosomes
- Syndrome