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

Ekaterina M. Galanina, Andrey A. Tulupov, Natalya A. Lemskaya, Aleksandra M. Korostyshevskaya, Yuliya V. Maksimova, Asia R. Shorina, Andrey A. Savelov, Irina G. Sergeeva, Evgeniya R. Isanova, Irina V. Grishchenko, Dmitry V. Yudkin

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)110-114
Number of pages5
JournalMolecular Syndromology
Volume8
Issue number2
DOIs
Publication statusPublished - 1 Mar 2017

Keywords

  • Aneuploidy
  • FMR1
  • Fragile X syndrome
  • Intellectual disability
  • X chromosome

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