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

doi:10.1016/0888-7543(91)90117-W

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

School of Medicine

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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 language	English (US)
Pages (from-to)	188-192
Number of pages	5
Journal	Genomics
Volume	11
Issue number	1
DOIs	https://doi.org/10.1016/0888-7543(91)90117-W
State	Published - 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

Jabs, EW, Coss, CA, Hayflick, SJ, Whitmore, TE, Pauli, RM, Kirkpatrick, SJ, Meyers, DA, Goldberg, R, Day, DW & Rosenbaum, KN 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, vol. 11, no. 1, pp. 188-192. https://doi.org/10.1016/0888-7543(91)90117-W

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title = "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",

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 Hayflick, {Susan J.} 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.}",

year = "1991",

doi = "10.1016/0888-7543(91)90117-W",

language = "English (US)",

volume = "11",

pages = "188--192",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

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T2 - Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region

AU - Jabs, Ethylin Wang

AU - Coss, Cathleen A.

AU - Hayflick, Susan J.

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.

PY - 1991

Y1 - 1991

N2 - 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.

AB - 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.

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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

Abstract

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