title: A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome.
abstract: 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, hypotonia, 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 we 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
authors.forename: S A
authors.initials: SA
authors.lastname: Goodart
authors.forename: A D
authors.initials: AD
authors.lastname: Simmons
authors.forename: D
authors.initials: D
authors.lastname: Grady
authors.forename: K
authors.initials: K
authors.lastname: Rojas
authors.forename: R K
authors.initials: RK
authors.lastname: Moyzis
authors.forename: M
authors.initials: M
authors.lastname: Lovett
authors.forename: J
authors.initials: J
authors.lastname: Overhauser
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D018244:Chromosomes, Artificial, Yeast; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D017931:DNA Primers; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D016324:Sequence Tagged Sites
chemical_list: D017931:DNA Primers