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A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability

2016-12-02 21:12:40

Molecular Sydromology; 2 December 2016: /DOI:10.1159/000453060

Galanina E.M.,Tulupov A.A.,Lemskaya N.A., Korostyshevskaya A.M., Maksimova Y.V., Shorina A.R., Savelov A.A., Sergeeva I.G., Isanova E.R.,Grishchenko I.V., Yudkin D.V.



Abstract


In this report, we describe a molecular cytogenetic study of a family burdened with intellectual disability (ID) and suicide. Our study revealed that the mother has a heterozygous premutation in the FMR1 gene and supernumerary X chromosomes as well as X-derived marker chromosomes. Both of her sons have ID and a normal chromosome number. One of the sons has fragile X syndrome, and the other has ID of an unclear nature.



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