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Article

Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.

European journal of human genetics : EJHG - 1 Sept 2005

Ars Elisabet, Tazón-Vega Bárbara, Ruiz Patricia, Nogués Carme, Arnedo Núria, Rajmil Osvaldo, Torra Roser

Abstract excerpt

Alport syndrome (AS) is a genetically heterogeneous renal hereditary disease. Male-to-male transmission has been considered fully indicative of autosomal dominant AS. We report a family with male-to-male transmission of X-linked AS due to an extra X chromosome of paternal origin in the proband. Linkage analysis excluded the autosomal loci and demonstrated segregation with the COL4A5 locus (Xq22.3). Sperm FISH...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 15957001
DOI: 10.1038/sj.ejhg.5201452

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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