[Cytogenetic and molecular genetic diagnostics of Rett syndrome in children].
Rett syndrome in 32 children (31 girls and 1 boy) was diagnosed according to International association on Rett syndrome. The phenomenon of the presence of special type of late-replicating chromosome X (type C) was revealed. This phenomenon may be recommended as a diagnostic test for both preclinical periods of development of the disease and in atypical cases of Rett syndrome.
Vorsanova
S G
SG
Demidova
I A
IA
Ulas
V Iu
VIu
Solov'ev
I V
IV
Kravets
V S
VS
Kazantseva
L Z
LZ
Iurov
Iu B
IuB
D002648:Child; D002675:Child, Preschool; D015342:DNA Probes / Q000737:chemistry; D004261:DNA Replication; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D012729:Sex Chromosome Aberrations; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers
Tsitogeneticheskaia i molekuliarno-geneticheskaia diagnostika sindroma Retta u deteĭ.