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A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
Am J Hum Genet 1996; 59(6):1337-41AJ

Abstract

A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts.

Authors+Show Affiliations

Department of Genetics, University of Nottingham, Queen's Medical Centre, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8940280

Citation

Terrett, J A., et al. "A Translocation at 12q2 Refines the Interval Containing the Holt-Oram Syndrome 1 Gene." American Journal of Human Genetics, vol. 59, no. 6, 1996, pp. 1337-41.
Terrett JA, Newbury-Ecob R, Smith NM, et al. A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. Am J Hum Genet. 1996;59(6):1337-41.
Terrett, J. A., Newbury-Ecob, R., Smith, N. M., Li, Q. Y., Garrett, C., Cox, P., ... Brook, J. D. (1996). A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. American Journal of Human Genetics, 59(6), pp. 1337-41.
Terrett JA, et al. A Translocation at 12q2 Refines the Interval Containing the Holt-Oram Syndrome 1 Gene. Am J Hum Genet. 1996;59(6):1337-41. PubMed PMID: 8940280.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. AU - Terrett,J A, AU - Newbury-Ecob,R, AU - Smith,N M, AU - Li,Q Y, AU - Garrett,C, AU - Cox,P, AU - Bonnet,D, AU - Lyonnet,S, AU - Munnich,A, AU - Buckler,A J, AU - Brook,J D, PY - 1996/12/1/pubmed PY - 1996/12/1/medline PY - 1996/12/1/entrez SP - 1337 EP - 41 JF - American journal of human genetics JO - Am. J. Hum. Genet. VL - 59 IS - 6 N2 - A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/8940280/A_translocation_at_12q2_refines_the_interval_containing_the_Holt_Oram_syndrome_1_gene_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/8940280/ DB - PRIME DP - Unbound Medicine ER -