Chromosomal deletion 4p15.32→p14 in a treacher collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region

Ethylin Wang Jabs, Cathleen A. Coss, Susan J. Hayflick, Theodore E. Whitmore, Richard M. Pauli, Susan J. Kirkpatrick, Deborah A. Meyers, Rosalie Goldberg, Donald W. Day, Kenneth N. Rosenbaum

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Theacher Collins syndrome is an autosomal dominant condition of bilateral craniofacial abnormalities of structures derived from the first and second branchial arches. A patient with severe manifestations of Treacher Collins syndrome and a de novo chromosomal deletion in region 4p15.32→p14 was identified. Anonymous DNA sequences of loci D4S18, D4S19, D4S20, D4S22, and D4S23 were mapped to the deleted region. DNA probes previously mapped to loci on chromosome 4p (D4S10, D4S15, D4S16, D4S26, D4S35, D4S95, D4S144, RAF1P1, QDPR, and HOX7) were not deleted in this patient. Linkage analysis between the D4S18, D4S23, and QDPR loci and Treacher Collins syndrome in eight families excluded the Treacher Collins syndrome locus from the region of the deletion.

Original languageEnglish (US)
Pages (from-to)188-192
Number of pages5
JournalGenomics
Volume11
Issue number1
DOIs
StatePublished - Sep 1991

ASJC Scopus subject areas

  • Genetics

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    Jabs, E. W., Coss, C. A., Hayflick, S. J., Whitmore, T. E., Pauli, R. M., Kirkpatrick, S. J., Meyers, D. A., Goldberg, R., Day, D. W., & Rosenbaum, K. N. (1991). Chromosomal deletion 4p15.32→p14 in a treacher collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics, 11(1), 188-192. https://doi.org/10.1016/0888-7543(91)90117-W