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A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region.
Illegitimate recombinations between low-copy repetitive elements (LCR) have been implicated in the pathogenesis of various chromosomal rearrangements. Two such duplicons have been reported previouslyExpand
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Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.
We studied a female patient initially diagnosed with Costello syndrome who carries an apparently balanced translocation, t(1;22) (q24.3;q13.1). Molecular characterization of the translocationExpand
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Molecular characterization of a chromosome 1;22 translocation in a patient with a phenotype resembling Costello syndrome
s – Posters Sutajova, M., Neukirchen, U., Czeizel, E., Timar, L., Gal, A. and Kutsche, K. (2002) Molecular characterization of a chromosome 1;22 translocation in a patient with Costello syndrome:Expand