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

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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 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 - Sep 1991
Externally published	Yes

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.}",

note = "Funding Information: This research was supported Deafness Research Foundation Funding Information: Hayfhck and T. Whitmore were supported by NIH Fellowship Training Grant in Medical Genetic T32 GM7471. We are grateful to Carol Miller for technical assistance. We thank John B. Mulli-ken of Harvard Medical School; R. B. Lowry of Alberta Children{\textquoteright}s Hospital; Bryan D. Hall and Ronald Cadle of University of Kentucky; Harvey Stern of Children{\textquoteright}s National Medical Center; San-ford Sherman, John Johnson, and Sarah Whitmer of Children{\textquoteright}s Hospital of Oakland; Robert J. Shprintxen of Mont&ore Medical Center; and Craig Dufresne of The Johns Hopkins School of Medicine for providing Treacher Collins syndrome patients.",

year = "1991",

month = sep,

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

language = "English (US)",

volume = "11",

pages = "188--192",

journal = "Genomics",

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T1 - Chromosomal deletion 4p15.32→p14 in a treacher collins syndrome patient

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.

N1 - Funding Information: This research was supported Deafness Research Foundation Funding Information: Hayfhck and T. Whitmore were supported by NIH Fellowship Training Grant in Medical Genetic T32 GM7471. We are grateful to Carol Miller for technical assistance. We thank John B. Mulli-ken of Harvard Medical School; R. B. Lowry of Alberta Children’s Hospital; Bryan D. Hall and Ronald Cadle of University of Kentucky; Harvey Stern of Children’s National Medical Center; San-ford Sherman, John Johnson, and Sarah Whitmer of Children’s Hospital of Oakland; Robert J. Shprintxen of Mont&ore Medical Center; and Craig Dufresne of The Johns Hopkins School of Medicine for providing Treacher Collins syndrome patients.

PY - 1991/9

Y1 - 1991/9

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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