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A gene for ulnar-mammary syndrome maps to 12q23-q24.1.
Hum Mol Genet. 1995 Oct; 4(10):1973-7.HM

Abstract

Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and genital anomalies. We report the mapping of a gene causing UMS to chromosome 12q23-24.1. Linkage analysis generated a positive lod score of 6.21 at theta = 0.00 with the marker D12S79, and recombinants bracket the UMS gene to a 21 cM region. This region contains a locus for Holt-Oram syndrome (HOS) suggesting that the genes for UMS and HOS may be allelic or closely linked. The identification of the gene causing UMS will be an important step toward understanding the molecular mechanisms that control limb and apocrine gland development.

Authors+Show Affiliations

Department of Pediatrics, University of Utah, Salt Lake City 84132-1001, USA.No 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
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8595424

Citation

Bamshad, M, et al. "A Gene for Ulnar-mammary Syndrome Maps to 12q23-q24.1." Human Molecular Genetics, vol. 4, no. 10, 1995, pp. 1973-7.
Bamshad M, Krakowiak PA, Watkins WS, et al. A gene for ulnar-mammary syndrome maps to 12q23-q24.1. Hum Mol Genet. 1995;4(10):1973-7.
Bamshad, M., Krakowiak, P. A., Watkins, W. S., Root, S., Carey, J. C., & Jorde, L. B. (1995). A gene for ulnar-mammary syndrome maps to 12q23-q24.1. Human Molecular Genetics, 4(10), 1973-7.
Bamshad M, et al. A Gene for Ulnar-mammary Syndrome Maps to 12q23-q24.1. Hum Mol Genet. 1995;4(10):1973-7. PubMed PMID: 8595424.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A gene for ulnar-mammary syndrome maps to 12q23-q24.1. AU - Bamshad,M, AU - Krakowiak,P A, AU - Watkins,W S, AU - Root,S, AU - Carey,J C, AU - Jorde,L B, PY - 1995/10/1/pubmed PY - 1995/10/1/medline PY - 1995/10/1/entrez SP - 1973 EP - 7 JF - Human molecular genetics JO - Hum Mol Genet VL - 4 IS - 10 N2 - Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and genital anomalies. We report the mapping of a gene causing UMS to chromosome 12q23-24.1. Linkage analysis generated a positive lod score of 6.21 at theta = 0.00 with the marker D12S79, and recombinants bracket the UMS gene to a 21 cM region. This region contains a locus for Holt-Oram syndrome (HOS) suggesting that the genes for UMS and HOS may be allelic or closely linked. The identification of the gene causing UMS will be an important step toward understanding the molecular mechanisms that control limb and apocrine gland development. SN - 0964-6906 UR - https://www.unboundmedicine.com/medline/citation/8595424/A_gene_for_ulnar_mammary_syndrome_maps_to_12q23_q24_1_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/4.10.1973 DB - PRIME DP - Unbound Medicine ER -