Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys)
| Autor: | Alexei D. Kolotii, Svetlana G. Vorsanova, Victoria Y. Ulas, A.K. Beresheva, Vasily O. Sharonin, Natalia L. Gorbatchevskaia, I. A. Demidova, Yuri B. Yurov, I.V. Soloviev |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Pathology X Chromosome Adolescent Chromosomal Proteins Non-Histone Methyl-CpG-Binding Protein 2 DNA Mutational Analysis Turner Syndrome Rett syndrome Biology Russia MECP2 Cohort Studies Klinefelter Syndrome Neurodevelopmental disorder Developmental Neuroscience Dosage Compensation Genetic Turner syndrome Rett Syndrome medicine Humans Genetic Testing Child X chromosome Retrospective Studies Chromosome Aberrations medicine.diagnostic_test Mosaicism Cytogenetics Infant Karyotype General Medicine medicine.disease DNA-Binding Proteins Repressor Proteins Child Preschool Mutation Pediatrics Perinatology and Child Health Female Neurology (clinical) Fluorescence in situ hybridization |
| Zdroj: | Brain and Development. 23:S196-S201 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/s0387-7604(01)00347-3 |
| Popis: | Rett syndrome (RTT) is a severe neurodevelopmental disorder with an incidence of 2.5% in mentally retarded girls in Russia. We have performed cytogenetic studies of 60 patients (57 girls and three boys) with a clinical picture of RTT, selected according to the criteria for diagnosis of RTT defined by B. Hagberg et al. in 1996. Collection of DNA samples and fixed cell suspensions of RTT patients (37 girls and two boys) and their parents (27 patients) was established for molecular studies, for example analysis of MECP2 mutations in a Russian cohort of RTT patients. Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X). Twenty-four mothers and parents of RTT girls had normal karyotype, two mothers had mosaic forms of Turner syndrome (45,X/46,XX) and one had mosaic karyotype (47,XX,+mar/48,XXX,+mar). We analyzed chromosome X in lymphocytes of 57 affected girls with a clinical picture of RTT using the 5-bromo-2'-deoxyuridine+Giemsa staining technique. A specific type of inactive chromosome X (so-called type 'C') with unusual staining of chromatin in the long arm of chromosome X was found in 55 (from 57) girls with RTT. This technique was positively used for presymptomatic diagnosis of RTT in five girls in earlier stages of the disease. We believe that the phenomenon of altered chromatin conformation in inactive chromosome X could be used as a laboratory test for preclinical diagnosis of the RTT. |
| Databáze: | OpenAIRE |
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