Article
Variability in a family with an insertion involving 5p.
American journal of medical genetics - 17 Sept 1999
Marinescu R C, Mamunes P, Kline A D, Schmidt J, Rojas K, Overhauser J
Abstract excerpt
Cri-du-chat syndrome is due to a partial deletion of the short arm of chromosome 5 and comprises a catlike cry, minor facial anomalies, growth delays, and psychomotor retardation. We identified a family with an insertion involving chromosome areas 5p and 16q. Four relatives are balanced carriers and have a normal phenotype, 5 have inherited the insertion in an unbalanced form with 2 resulting in partial trisomy...
Topics
- Adult
- Child, Preschool
- Chromosome Aberrations
- Chromosomes, Human, Pair 16
- Chromosomes, Human, Pair 5
- Chromosomes, Human, Pair 9
- Cri-du-Chat Syndrome
- Cytogenetics
- Female
- Genotype
- Humans
- Infant
- Intellectual Disability
- Male
- Pedigree
- Phenotype
- Physical Chromosome Mapping
- Polymerase Chain Reaction