Publication: 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
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
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Vandewalle, J., Van Esch, H., Govaerts, K., Verbeeck, J., Zweier, C., Madrigal, I., Mila, M., Pijkels, E., Fernandez, I., Kohlhase, J., Spaich, C., Rauch, A., Fryns, J. P., Marynen, P., & Froyen, G. (2009). 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, 85, 809–822. https://doi.org/10.1016/j.ajhg.2009.10.019
Abstract
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Abstract
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 copy repeat LCR-K1, at position 153.20 Mb, and end just distal to LCR-L2, at 153.54 Mb. The copy-number gain always includes
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- Vandewalle, J
- Van Esch, H
- Govaerts, K
- Verbeeck, J
- Zweier, C
- Madrigal, I
- Mila, M
- Pijkels, E
- Fernandez, I
- Kohlhase, J
- Spaich, C
- Rauch, A
- Fryns, J P
- Marynen, P
- Froyen, G
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Vandewalle, J., Van Esch, H., Govaerts, K., Verbeeck, J., Zweier, C., Madrigal, I., Mila, M., Pijkels, E., Fernandez, I., Kohlhase, J., Spaich, C., Rauch, A., Fryns, J. P., Marynen, P., & Froyen, G. (2009). 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, 85, 809–822. https://doi.org/10.1016/j.ajhg.2009.10.019
