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Galanina EM, Tulupov AA, Lemskaya NA, et al. A Female Patient with . Mol Syndromol. 2016;8(2):110-114doi: 10.1159/000453060.
Galanina, E. M., Tulupov, A. A., Lemskaya, N. A., Korostyshevskaya, A. M., Maksimova, Y. V., Shorina, A. R., Savelov, A. A., Sergeeva, I. G., Isanova, E. R., Grishchenko, I. V., & Yudkin, D. V. (2017). A Female Patient with . Molecular syndromology, 8(2), 110-114. https://doi.org/10.1159/000453060
Galanina, Ekaterina M, et al. "A Female Patient with ." Molecular syndromology vol. 8,2 (2017): 110-114. doi: https://doi.org/10.1159/000453060
Galanina EM, Tulupov AA, Lemskaya NA, Korostyshevskaya AM, Maksimova YV, Shorina AR, Savelov AA, Sergeeva IG, Isanova ER, Grishchenko IV, Yudkin DV. A Female Patient with . Mol Syndromol. 2017 Mar;8(2):110-114. doi: 10.1159/000453060. Epub 2016 Dec 07. PMID: 28611553; PMCID: PMC5465704.
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Mol Syndromol. 2017 Mar;8(2):110-114. doi: 10.1159/000453060. Epub 2016 Dec 07.

A Female Patient with .

Molecular syndromology

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

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.

PMID: 28611553 PMCID: PMC5465704 DOI: 10.1159/000453060

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

Keywords: Aneuploidy; FMR1; Fragile X syndrome; Intellectual disability; X chromosome

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