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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 I.Iu.

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

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

Kurinnaia O.S.

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

Zelenova M.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

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

Ulas E.V.

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

Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations

Authors:

Vorsanova S.G., Iurov I.Iu., Voinova V.Iu., Kurinnaia O.S., Zelenova M.A., Demidova I.A., Ulas E.V., Iurov Iu.B.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2013;113(10): 63‑68

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SUBCHROMOSOMAL MICRODELETION IDENTIFIED BY MOLECULAR KARYOTYPING USING DNA MICROARRAYS (ARRAY CGH) IN RETT SYNDROME GIRLS NEGATIVE FOR MECP2 GENE MUTATIONS
SUBCHROMOSOMAL MICRODELETION IDENTIFIED BY MOLECULAR KARYOTYPING USING DNA MICROARRAYS (ARRAY CGH) IN RETT SYNDROME GIRLS NEGATIVE FOR MECP2 GENE MUTATIONS

To cite this article:

Vorsanova SG, Iurov IIu, Voinova VIu, et al. . Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations. S.S. Korsakov Journal of Neurology and Psychiatry. 2013;113(10):63‑68. (In Russ.)

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
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Abstract:

Molecular karyotyping using DNA microarrays (array CGH) was applied for identification of subchromosomal microdeletions in a cohort of 12 girls with clinical features of RETT syndrome, but negative for MECP2 gene mutations. Recurrent microdeletions of MECP2 gene in chromosome X (locus Xq28) were identified in 5 girls of 12 studied. Probably RTT girls with subchromosomic microdeletions in Xq28 could represent a special subtype of the disease, which appears as clinically milder than the classic form of disease. In one case, an atypical form of RTT was associated with genomic abnormalities affecting CDKL5 gene and region critical for microdeletion Prader-Willi and Angelman syndromes (15q11.2). In addition, data are presented for the first time that genetic variation in regions 3p13, 3q27.1, and 1q21.1-1q21.2 could associate with RTT-like clinical manifestations. Without application of molecular karyotyping technology and bioinformatic method of assessing the pathogenic significance of genomic rearrangements these RTT-like girls negative for MECP2 gene mutations were considered as cases of idiopathic mental retardation associated with autism. It should be noted that absence of intragenic mutations in MECP2 gene is not sufficient criteria to reject the clinical diagnosis of RTT. To avoid errors in the genetic diagnosis of this genetically heterogeneous brain disease molecular cytogenetic studies using high resolution oligonucleotide array CGH (molecular karyotyping) are needed.

Keywords:

Rett syndrome
autism
mental retardation
genome
DNA microarrays
molecular karyotyping
genomic and chromosomal abnormalities

Authors:

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 I.Iu.

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

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

Kurinnaia O.S.

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

Zelenova M.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

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

Ulas E.V.

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

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