Bychkova G. Clinical polymorfism and genetical geterogennity of the Martin-Bell syndrome

Українська версія

Thesis for the degree of Candidate of Sciences (CSc)

State registration number

0499U002879

Thesis Registration Form

0499U002879.pdf

Applicant for

Specialization

  • 03.00.15 - Генетика

22-10-1999

Specialized Academic Board

Д.26.604.01

Essay

53 patients with clinical symptoms of the Martin-Bell syndrome. To develop criterions of diferential diagnostics of the Martin-Bell syndrome. Methods of investigations: clinico-genealogical, cytogene- tical, molecular-genetical, pathopsychological and statistical. For the first time two clinical forms have been distinguished, it was shown genetical geterogennity and the connection between fenotypical signs. The data have been received were introduced into the practice of the medical-genetical diagnostics of the Martin-Bell syndrome. The sphere of use is medical-genetical consulting, prenatal diagnostics and determining of the carrying of mutant genes

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