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THE PROBLEMS OF RETT SYNDROME DIAGNOSIS IN GIRLS WITHOUT A MUTATION IN THE MEСP2 GENE: APPLICATION OF MOLECULAR KARYOTYPING

Vorsanova S.G., Iourov I.Yu., Voinova V.Yu., Kurinnaya O.S., Zelenova M.A., Demidova I.A., Yurov Yu.B.

Introduction. Rett syndrome (RTT) is the most common genetic syndrome underlying mental retardation and autism in girls. Etiology of this disorder is related to mutation in the MECP2 gene. However, there are many cases of this disease without the MECP2 mutatio…