[A clinical and molecular genetic analysis of the fragile X syndrome].
Results of phenotypical, patho-psychological and molecular-genetic analysis of the 53 probands with clinical features of the fragile X syndrome and 10 female carriers are presented. The clinical heterogeneity, diagnostic criteria, methods of genetic risk estimation, perspectives of prevention of this disease are discussed.
Bychkova
A M
AM
Maliarchuk
S G
SG
Livshits
L A
LA
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D008040:Genetic Linkage / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011599:Psychopathology; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
D004247:DNA