Article
Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.
Human molecular genetics - 1 Feb 1994
Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth J J
Abstract excerpt
Forty-nine individuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the cri-du-chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing the deleted chromosome 5 were derived from each patient. Each somatic cell hybrid was analyzed at...
Topics
- Animals
- Base Sequence
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Cri-du-Chat Syndrome
- Cricetinae
- Humans
- Hybrid Cells
- Intellectual Disability