Genomics. 1991 Sep;11(1):188-92.

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 EW, Coss CA, Hayflick SJ, Whitmore TE, Pauli RM, Kirkpatrick SJ, Meyers DA, Goldberg R, Day DW, Rosenbaum KN.

Source

Department of Pediatrics and Medicine, Johns Hopkins Hospital, Baltimore, Maryland 21205.

Abstract

Treacher 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.

PMID:: 1684950; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

DNA Probes

Grant Support

LinkOut - more resources

Full Text Sources

Elsevier Science

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. [Genomics. 1991]
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL. Genomics. 1991 Sep; 11(1):193-8.
Treacher Collins syndrome: correlation between clinical and genetic linkage studies. [Clin Dysmorphol. 1994]
Treacher Collins syndrome: correlation between clinical and genetic linkage studies.
Dixon MJ, Marres HA, Edwards SJ, Dixon J, Cremers CW. Clin Dysmorphol. 1994 Apr; 3(2):96-103.
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. [Am J Hum Genet. 1991]
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. Am J Hum Genet. 1991 Jul; 49(1):17-22.
Review Treacher Collins syndrome: from linkage to prenatal testing. [J Laryngol Otol. 1998]
Review Treacher Collins syndrome: from linkage to prenatal testing.
Dixon MJ. J Laryngol Otol. 1998 Aug; 112(8):705-9.
Review Treacher Collins syndrome. [Hum Mol Genet. 1996]
Review Treacher Collins syndrome.
Dixon MJ. Hum Mol Genet. 1996; 5 Spec No:1391-6.

See reviews... See all...

Cited by 5 PubMed Central articles

A comprehensive review of the genetic basis of cleft lip and palate. [J Oral Maxillofac Pathol. 2012]
A comprehensive review of the genetic basis of cleft lip and palate.
Kohli SS, Kohli VS. J Oral Maxillofac Pathol. 2012 Jan; 16(1):64-72.
Cytogenetic and clinical assessment of a family with treacher collins syndrome. [Case Report Med. 2011]
Cytogenetic and clinical assessment of a family with treacher collins syndrome.
Kumar M, Kumar R, Tanwar M, Ghose S, Kaur J, Dada R. Case Report Med. 2011; 2011:708450. Epub 2011 Jun 23.
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster. [Am J Med Genet A. 2007]
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.
Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST. Am J Med Genet A. 2007 May 15; 143A(10):1053-9.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
UniSTS
Genetic, physical, and sequence mapping reagents in the UniSTS database associated with the current articles through references on sequence tagged site (STS) submissions as well as automated searching of PubMed abstracts and full-text PubMed Central articles for marker names.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: excl...
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. 1991 Sep ;11(1):188-92.

PubMed
Allergic airway inflammation inhibits pulmonary antibacterial host defense.
Allergic airway inflammation inhibits pulmonary antibacterial host defense.
J Immunol. 2006 Aug 1 ;177(3):1833-7.

PubMed
New generation vaccine induces effective melanoma-specific CD8+ T cells in the c...
New generation vaccine induces effective melanoma-specific CD8+ T cells in the circulation but not in the tumor site.
J Immunol. 2006 Aug 1 ;177(3):1670-8.

PubMed
RasGRP1 transmits prodifferentiation TCR signaling that is crucial for CD4 T cel...
RasGRP1 transmits prodifferentiation TCR signaling that is crucial for CD4 T cell development.
J Immunol. 2006 Aug 1 ;177(3):1470-80.

PubMed
Tripeptidyl peptidase II is the major peptidase needed to trim long antigenic pr...
Tripeptidyl peptidase II is the major peptidase needed to trim long antigenic precursors, but is not required for most MHC class I antigen presentation.
J Immunol. 2006 Aug 1 ;177(3):1434-43.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: