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

doi:10.1159/000453060

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

Mol Syndromol. 2017 Mar;8(2):110-114. doi: 10.1159/000453060. Epub 2016 Dec 7.

Authors

Affiliations

¹ Chromosome Pathology Group, Institute of Molecular and Cellular Biology, Novosibirsk, Russia.
² Department of Medicine, Novosibirsk State University, Novosibirsk, Russia.
³ International Tomography Center, SB RAS, Novosibirsk, Russia.
⁴ Novosibirsk State Medical University, Novosibirsk, Russia.
⁵ Novosibirsk State Regional Clinical Diagnostic Center, Novosibirsk, Russia.

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.