Abstract
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.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
