A clinical and molecular genetic analysis of the fragile X syndrome
Bychkova, A.M.; Maliarchuk, S.G.; Livshits, L.A.
Tsitologiia i Genetika 33(4): 70-76
1999
ISSN/ISBN: 0564-3783 PMID: 10563381 Document Number: 503651
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.
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