A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability
| Autor: | Asia R. Shorina, Irina G. Sergeeva, Irina V. Grishchenko, Dmitry V. Yudkin, Ekaterina M. Galanina, Natalya A. Lemskaya, Yuliya V. Maksimova, Evgeniya R. Isanova, Aleksandra M. Korostyshevskaya, Andrey A. Savelov, Andrey Tulupov |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics congenital hereditary and neonatal diseases and abnormalities Aneuploidy 030105 genetics & heredity Biology medicine.disease FMR1 Fmr1 gene Fragile X syndrome 03 medical and health sciences Novel Insights from Clinical Practice Intellectual disability Female patient medicine Supernumerary Genetics (clinical) X chromosome |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|