A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome
- Thomas Jefferson Univ., Philadelphia, PA (United States); and others
Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hyptonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the syndrome. Recently, a correlation between clinical features and the extent of the chromosome 5 deletions has identified two regions of the short arm that appear to be critical for the abnormal development manifested in this syndrome. Loss of a small region in 5p15.2 correlates with all of the clinical features of cri-du-chat with the exception of the cat-like cry, which maps to 5p15.3. Here the authors report the construction of a YAC contig that spans the chromosomal region in 5p15.2 that plays a major role in the etiology of the cri-du-chat syndrome. YACs that span the 2-Mb cri-du-chat critical region have been identified and characterized. This YAC contig lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in the clinical features associated with the cri-du-chat syndrome. It also provides a new diagnostic tool for cri-du-chat in the shape of a YAC clone that may span the entire critical region. 24 refs., 4 figs., 2 tabs.
- OSTI ID:
- 256468
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 24; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
Similar Records
Two families with isolated cat cry without the cri-du-chat syndrome phenotype have an inherited 5p15.3 deletion: Delineation of the larynx malformation region
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
The identification of five novel genes in the cri-du-chat critical region
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:133408
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
Journal Article
·
Thu Jun 01 00:00:00 EDT 1995
· American Journal of Human Genetics
·
OSTI ID:91192
The identification of five novel genes in the cri-du-chat critical region
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134475