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

doi:10.1002/(SICI)1096-8628(19970120)68:2<244::AID-AJMG27>3.0.CO;2-T

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

Pediatrics

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	244-248
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	68
Issue number	2
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19970120)68:2<244::AID-AJMG27>3.0.CO;2-T
State	Published - Jan 20 1997

Keywords

GBBB syndrome
Opitz syndrome
Xp22
linkage

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/(SICI)1096-8628(19970120)68:2<244::AID-AJMG27>3.0.CO;2-T

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

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.",

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AU - Katsanis, Sara

AU - Wilroy, R. Sid

AU - Schwartz, Charles

PY - 1997/1/20

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N2 - 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.

AB - 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.

KW - GBBB syndrome

KW - Opitz syndrome

KW - Xp22

KW - linkage

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

Abstract

Keywords

ASJC Scopus subject areas

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