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

Результат исследования: Научные публикации в периодических изданияхстатьярецензирование

Аннотация

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.

Язык оригиналаанглийский
Страницы (с-по)110-114
Число страниц5
ЖурналMolecular Syndromology
Том8
Номер выпуска2
DOI
СостояниеОпубликовано - 1 мар 2017

Fingerprint Подробные сведения о темах исследования «A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability». Вместе они формируют уникальный семантический отпечаток (fingerprint).

Цитировать