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Am J Med Genet. 1994 Feb 15;49(4):431-4.

Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26.

Author information

1
Clinical Genetics Unit, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Abstract

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.

PMID:
7909197
DOI:
10.1002/ajmg.1320490416
[Indexed for MEDLINE]

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