Article
High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.
American journal of human genetics - 1 Feb 2005
Zhang Xiaoxiao, Snijders Antoine, Segraves Richard, Zhang Xiuqing, Niebuhr Anita, Albertson Donna, Yang Huanming, Gray Joe, Niebuhr Erik, Bolund Lars, Pinkel Dan
Abstract excerpt
We have used array comparative genomic hybridization to map DNA copy-number changes in 94 patients with cri du chat syndrome who had been carefully evaluated for the presence of the characteristic cry, speech delay, facial dysmorphology, and level of mental retardation (MR). Most subjects had simple deletions involving 5p (67 terminal and 12 interstitial). Genotype-phenotype correlations localized the region...
Topics
- Adult
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Cri-du-Chat Syndrome
- DNA Mutational Analysis
- Genotype
- Humans
- Intellectual Disability
- Nucleic Acid Hybridization
- Oligonucleotide Array Sequence Analysis
- Phenotype