| Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26. | |
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MedLine Citation:
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PMID: 7909197 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The thoraco-abdominal syndrome (TAS) presents a closure defect confined to the ventral midline, manifested as ventral hernia of various degrees in all affected individuals and antero-lateral diaphragmatic defect manifested almost exclusively in affected males. The syndrome is inherited as an X-linked dominant trait affecting blastogenesis (XLB mutation). We studied 27 members of the TAS family for linkage on the X chromosome. The best lod score of 5.5 at theta 0.04 was found for the HPRT locus on Xq26.1. A multilocus lod score of 12.4 was observed when the linkage analysis utilized additional markers in Xq25-26. |
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Authors:
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R Parvari; Y Weinstein; S Ehrlich; M Steinitz; R Carmi |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics Volume: 49 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Feb |
Date Detail:
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Created Date: 1994-05-17 Completed Date: 1994-05-17 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 431-4 Citation Subset: IM |
Affiliation:
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Clinical Genetics Unit, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abdomen
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abnormalities* Chromosome Mapping Female Humans Linkage (Genetics)* Lod Score Male Pedigree Polymorphism, Restriction Fragment Length Syndrome Thorax / abnormalities* X Chromosome* |
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