Article
Small terminal deletions of the long arm of chromosome 2: two new cases.
American journal of medical genetics - 1 Dec 1994
Fisher A M, Ellis K H, Browne C E, Barber J C, Barker M, Kennedy C R, Foley H, Patton M A
Abstract excerpt
We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 case...
Topics
- Child
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 2
- Developmental Disabilities
- Female
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Phenotype