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A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome.
Genomics. 1994 Nov 01; 24(1):63-8.G

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.

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Authors+Show Affiliations

Goodart SA
Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
Simmons AD
No affiliation info available
Grady D
No affiliation info available
Rojas K
No affiliation info available
Moyzis RK
No affiliation info available
Lovett M
No affiliation info available
Overhauser J
No affiliation info available

MeSH

Base SequenceChromosome DeletionChromosomes, Artificial, YeastChromosomes, Human, Pair 5Cri-du-Chat SyndromeDNA PrimersHumansHybrid CellsMolecular Sequence DataSequence Tagged Sites

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7896290

Citation

Goodart, S A., et al. "A Yeast Artificial Chromosome Contig of the Critical Region for Cri-du-chat Syndrome." Genomics, vol. 24, no. 1, 1994, pp. 63-8.
Goodart SA, Simmons AD, Grady D, et al. A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics. 1994;24(1):63-8.
Goodart, S. A., Simmons, A. D., Grady, D., Rojas, K., Moyzis, R. K., Lovett, M., & Overhauser, J. (1994). A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics, 24(1), 63-8.
Goodart SA, et al. A Yeast Artificial Chromosome Contig of the Critical Region for Cri-du-chat Syndrome. Genomics. 1994 Nov 1;24(1):63-8. PubMed PMID: 7896290.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. AU - Goodart,S A, AU - Simmons,A D, AU - Grady,D, AU - Rojas,K, AU - Moyzis,R K, AU - Lovett,M, AU - Overhauser,J, PY - 1994/11/1/pubmed PY - 1994/11/1/medline PY - 1994/11/1/entrez SP - 63 EP - 8 JF - Genomics JO - Genomics VL - 24 IS - 1 N2 - 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. SN - 0888-7543 UR - https://www.unboundmedicine.com/medline/citation/7896290/A_yeast_artificial_chromosome_contig_of_the_critical_region_for_cri_du_chat_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0888-7543(84)71582-5 DB - PRIME DP - Unbound Medicine ER -