Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region

Melanie May, Sara Katsanis, R. Sid Wilroy, Charles Schwartz*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

The Opitz GBBB syndrome (OS) is characterized in part by widely spaced inner ocular canthi and hypospadias. Recently, linkage analysis showed that the gene for the X-linked form to be located in an 18 cM region spanning Xp22. We have now conducted linkage analysis in a family previously published as having the BBB syndrome and found tight linkage to DXS7104 (Z=3.3, θ=0.0). Our data narrows the candidate region to 4 cM and should facilitate the identification and characterization of one of the genes involved in midline development.

Original languageEnglish (US)
Pages (from-to)244-248
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume68
Issue number2
DOIs
StatePublished - Jan 20 1997

Keywords

  • GBBB syndrome
  • Opitz syndrome
  • Xp22
  • linkage

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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