Article
Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.
American journal of human genetics - 1 May 1995
Church D M, Bengtsson U, Nielsen K V, Wasmuth J J, Niebuhr E
Abstract excerpt
Cri du chat syndrome (CDC) is a segmental aneusomy associated with deletions of chromosome 5p15. In an effort to define regions that produce the phenotypes associated with CDC, we have analyzed deletions from 17 patients. The majority of these patients had atypical CDC features or were asymptomat...
Topics
- Base Sequence
- Cells, Cultured
- Chromosome Deletion
- Chromosomes, Human, Pair 5
- Cri-du-Chat Syndrome
- Female
- Genetic Markers
- Haplotypes
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Sequence Deletion