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 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

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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 - 1991
Externally publishedYes

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Mandibulofacial Dysostosis
Craniofacial Abnormalities
Branchial Region
DNA Probes
Chromosomes

ASJC Scopus subject areas

  • Genetics

Cite this

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

In: Genomics, Vol. 11, No. 1, 1991, p. 188-192.

Research output: Contribution to journalArticle

Jabs, Ethylin Wang ; Coss, Cathleen A. ; Hayflick, Susan ; Whitmore, Theodore E. ; Pauli, Richard M. ; Kirkpatrick, Susan J. ; Meyers, Deborah A. ; Goldberg, Rosalie ; Day, Donald W. ; Rosenbaum, Kenneth N. / 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. In: Genomics. 1991 ; Vol. 11, No. 1. pp. 188-192.
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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.",
author = "Jabs, {Ethylin Wang} and Coss, {Cathleen A.} and Susan Hayflick and Whitmore, {Theodore E.} and Pauli, {Richard M.} and Kirkpatrick, {Susan J.} and Meyers, {Deborah A.} and Rosalie Goldberg and Day, {Donald W.} and Rosenbaum, {Kenneth N.}",
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AU - Jabs, Ethylin Wang

AU - Coss, Cathleen A.

AU - Hayflick, Susan

AU - Whitmore, Theodore E.

AU - Pauli, Richard M.

AU - Kirkpatrick, Susan J.

AU - Meyers, Deborah A.

AU - Goldberg, Rosalie

AU - Day, Donald W.

AU - Rosenbaum, Kenneth N.

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