The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Login
EN
+7 (495) 482-4118
+7 (495) 482-4329
+8 800 250-18-12
  • (toll-free number for subscriptions)
    Mon-Fri from 10 a.m. to 6 p.m.

  • © 1998-2026
+7 (495) 482-43-29
EN
All journals
Journal
Year
Year
Search result: 0

Voinova V.Iu.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Vorsanova S.G.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Iurov Iu.B.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Kolotiĭ A.D.

FGBU "Moskovskiĭ NII pediatrii i detskoĭ khirurgii" Minzdrava Rossii, Moskva;
FGBU "Nauchnyĭ tsentr psikhicheskogo zdorov'ia" RAMN, Moskva

Davidova Yu.I.

Mental Health Research Center Russian Academy of Sciences, Moscow

Demidova I.A.

FGBU "Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN", Moskva;
FGBU "Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava Rossii", Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Novikov P.V.

Mental Health Research Center Russian Academy of Sciences, Moscow

Iurov I.Iu.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene

Authors:

Voinova V.Iu., Vorsanova S.G., Iurov Iu.B., Kolotiĭ A.D., Davidova Yu.I., Demidova I.A., Novikov P.V., Iurov I.Iu.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2015;115(10): 10‑16

DOI: 10.17116/jnevro201511510110-16

Read: 10655 times

Download PDF (RU)
Contact the author
Table of contents

CLINICAL AND GENETIC CHARACTERISTICS OF THE X CHROMOSOME DISTAL LONG ARM MICRODUPLICATIONS ENCOMPASSING THE MECP2 GENE
CLINICAL AND GENETIC CHARACTERISTICS OF THE X CHROMOSOME DISTAL LONG ARM MICRODUPLICATIONS ENCOMPASSING THE MECP2 GENE

To cite this article:

Voinova VIu, Vorsanova SG, Iurov IuB, et al. . Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2015;115(10):10‑16. (In Russ.)
https://doi.org/10.17116/jnevro201511510110-16

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
МСФ на ЯМ
Использование инфографики авторами научных работ
Close metadata
Recommended articles:
A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, poly­dactyly, mental deve­lopment diso­rder, and neuromuscular system diso­rders. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;(2):137-142
Pera­mpanel treatment in IQSEC2-associated epileptic ence­phalopathy. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;(2):143-149
Factors supporting chro­nic inflammation in mental illness. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;(8):7-15
Aripiprazole in the treatment of psychiatric diso­rders in childhood. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;(10-2):38-47
Static delay exercises for improvement of proprioception and move­ments control in children with impaired inte­lligence (on the example of walking pattern correction). Problems of Balneology, Physiotherapy and Exercise Therapy. 2025;(1):32-36
Abstract:

Objective. Microduplications of the long arm of the X chromosome including the MECP2 gene are relatively common causes of neurodevelopmental disorders in males. Authors analyzed clinical presentations of this disease in children. Material and methods. Authors performed a clinical and genetic analysis of four cases using contemporary cytogenetic, molecular cytogenetic studies (FISH, array CGH) and X chromosome inactivation analysis. Results and conclusion. We described somatic, neurologic and mental symptoms of the patients. The genetic imbalance impact on the patients’ phenotype, necessity of comprehensive family studies for correct genetic diagnosis and effective genetic counseling in cases of microduplications of the long arm of the X chromosome including the MECP2 gene are discussed.

Keywords:

X chromosome
Xq28 microduplication
intellectual disability
autism
genetic counseling

Authors:

Voinova V.Iu.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Vorsanova S.G.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Iurov Iu.B.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Kolotiĭ A.D.

FGBU "Moskovskiĭ NII pediatrii i detskoĭ khirurgii" Minzdrava Rossii, Moskva;
FGBU "Nauchnyĭ tsentr psikhicheskogo zdorov'ia" RAMN, Moskva

Davidova Yu.I.

Mental Health Research Center Russian Academy of Sciences, Moscow

Demidova I.A.

FGBU "Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN", Moskva;
FGBU "Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava Rossii", Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Novikov P.V.

Mental Health Research Center Russian Academy of Sciences, Moscow

Iurov I.Iu.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Close metadata

Contact the author
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

Contact us
If you have any questions, complaints or suggestions, please use this feedback form.
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.
Submit Application

You can become an author of one of our magazines, send a request and we will consider it in during the day.

Name
Phone
E-mail
Message
Login
Registration
E-mail
Password
Forgot Password?

Log in to the site using your account in one of the services

Password recovery
E-mail
Login
Register

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.