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Article

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

American journal of human genetics - 1 Dec 2009

Vandewalle Joke, Van Esch Hilde, Govaerts Karen, Verbeeck Jelle, Zweier Christiane, Madrigal Irene, Mila Montserrat, Pijkels Elly, Fernandez Isabel, Kohlhase Jürgen, Spaich Christiane, Rauch Anita, Fryns Jean-Pierre, Marynen Peter, Froyen Guy

Abstract excerpt

We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the families, and the carrier mothers show nonrandom X chromosome inactivation. Tiling Xq28-region-specific oligo array revealed that all aberrations start at the beginning of the low...

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Source

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Identifiers

PMID: 20004760
DOI: 10.1016/j.ajhg.2009.10.019
PMCID: PMC2790561

Genes

GDI1
MECP2
RPL10

Provenance

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Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.PMID 20004760Read ↗

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