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

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

doi:10.1002/ajmg.1320490416

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 journal › Article › peer-review

27 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 language	English
Pages (from-to)	431-434
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	49
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320490416
State	Published - 1 Jan 1994

Keywords

X-linked dominant
pentalogy of Cantrell
ventral midline defect

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320490416

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title = "Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25- 26",

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.",

keywords = "X-linked dominant, pentalogy of Cantrell, ventral midline defect",

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AU - Parvari, R.

AU - Weinstein, Y.

AU - Ehrlich, S.

AU - Steinitz, M.

AU - Carmi, R.

PY - 1994/1/1

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N2 - 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.

AB - 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.

KW - X-linked dominant

KW - pentalogy of Cantrell

KW - ventral midline defect

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VL - 49

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JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

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

Abstract

Keywords

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