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

R. Parvari, Y. Weinstein, S. Ehrlich, M. Steinitz, R. Carmi

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

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 θ 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.

Original languageEnglish
Pages (from-to)431-434
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume49
Issue number4
DOIs
StatePublished - 1 Jan 1994
Externally publishedYes

Keywords

  • X-linked dominant
  • pentalogy of Cantrell
  • ventral midline defect

ASJC Scopus subject areas

  • Genetics(clinical)

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