@article{60b8d1a524e9470990e8e61a8d75a4c6,
title = "A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability",
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.",
keywords = "Aneuploidy, FMR1, Fragile X syndrome, Intellectual disability, X chromosome",
author = "Galanina, {Ekaterina M.} and Tulupov, {Andrey A.} and Lemskaya, {Natalya A.} and Korostyshevskaya, {Aleksandra M.} and Maksimova, {Yuliya V.} and Shorina, {Asia R.} and Savelov, {Andrey A.} and Sergeeva, {Irina G.} and Isanova, {Evgeniya R.} and Grishchenko, {Irina V.} and Yudkin, {Dmitry V.}",
year = "2017",
month = mar,
day = "1",
doi = "10.1159/000453060",
language = "English",
volume = "8",
pages = "110--114",
journal = "Molecular Syndromology",
issn = "1661-8769",
publisher = "S. Karger AG",
number = "2",
}