Report of the Sixth International Workshop on Human X Chromosome Mapping 1995

Bech-Hansen, Torben

doi:10.1159/000134135

Cytogenet Genome Res

1995

DOI: 10.1159/000134135

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Report of the Sixth International Workshop on Human X Chromosome Mapping 1995

Torben Bech-Hansen¹

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Cited by 46 publications

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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.

et al. 1997

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

et al. 1997

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SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders

1997

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Deletion of 8.5 Mb, including theFMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth

et al. 1999

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A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200 kb apart) at Xq27.1 (centromeric) and between DXS8318 (612-1078L) and DXS7847 (576-291L) (approximately 250 kb apart) at Xq28, about 500 kb telomeric to the FMR1 gene. The total length of the deletion is approximately 8.5 Mb. The propositus's mother, who was found to be a carrier of the deletion, showed very mild mental impairment. Except for mental retardation, which is a common finding in all cases reported with similar deletions of chromosome Xq, this patient had generalized overgrowth, exceeding the 97th centile for height and weight. Obesity and increased growth parameters have been reported in other patients with deletions either overlapping or within a distance of 0.5 Mb from the deletion in the present patient. Thus, it is suggested that a deletion of the 8-Mb fragment centromeric to the FMR1 gene might have an effect on growth.

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Report of the Sixth International Workshop on Human X Chromosome Mapping 1995

Cited by 46 publications

References 48 publications

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

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

SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders

Deletion of 8.5 Mb, including theFMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth

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