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The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American journal of human genetics Pubmed

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Dixon, M J; Read, A P; Donnai, D; Colley, A; Dixon, J; Williamson, R
American journal of human genetics , Volume 49 (1): 6 – Aug 2, 1991
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The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.


Abstract

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1.

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ISSN
0002-9297
pmid
1676560

Abstract

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1.

Journal

American journal of human genetics – Pubmed

Published: Aug 2, 1991

There are no references for this article.