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A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability. / Galanina, Ekaterina M.; Tulupov, Andrey A.; Lemskaya, Natalya A. и др.

в: Molecular Syndromology, Том 8, № 2, 01.03.2017, стр. 110-114.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

Harvard

Galanina, EM, Tulupov, AA, Lemskaya, NA, Korostyshevskaya, AM, Maksimova, YV, Shorina, AR, Savelov, AA, Sergeeva, IG, Isanova, ER, Grishchenko, IV & Yudkin, DV 2017, 'A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability', Molecular Syndromology, Том. 8, № 2, стр. 110-114. https://doi.org/10.1159/000453060

APA

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 FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability. Molecular Syndromology, 8(2), 110-114. https://doi.org/10.1159/000453060

Vancouver

Galanina EM, Tulupov AA, Lemskaya NA, Korostyshevskaya AM, Maksimova YV, Shorina AR и др. A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability. Molecular Syndromology. 2017 март 1;8(2):110-114. doi: 10.1159/000453060

Author

Galanina, Ekaterina M. ; Tulupov, Andrey A. ; Lemskaya, Natalya A. и др. / A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability. в: Molecular Syndromology. 2017 ; Том 8, № 2. стр. 110-114.

BibTeX

@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",

}

RIS

TY - JOUR

T1 - A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability

AU - Galanina, Ekaterina M.

AU - Tulupov, Andrey A.

AU - Lemskaya, Natalya A.

AU - Korostyshevskaya, Aleksandra M.

AU - Maksimova, Yuliya V.

AU - Shorina, Asia R.

AU - Savelov, Andrey A.

AU - Sergeeva, Irina G.

AU - Isanova, Evgeniya R.

AU - Grishchenko, Irina V.

AU - Yudkin, Dmitry V.

PY - 2017/3/1

Y1 - 2017/3/1

N2 - 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.

AB - 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.

KW - Aneuploidy

KW - FMR1

KW - Fragile X syndrome

KW - Intellectual disability

KW - X chromosome

UR - http://www.scopus.com/inward/record.url?scp=85001555521&partnerID=8YFLogxK

U2 - 10.1159/000453060

DO - 10.1159/000453060

M3 - Article

C2 - 28611553

AN - SCOPUS:85001555521

VL - 8

SP - 110

EP - 114

JO - Molecular Syndromology

JF - Molecular Syndromology

SN - 1661-8769

IS - 2

ER -

ID: 8690302