[The importance of molecular genetic diagnosis of Martin-Bell disease in genetic counseling].
The female consultant had two mentally retarded boys from her two marriages. The clinical symptoms and Fra-X chromosomes indicated their Martin-Bell disease. The daughter of the consultant is healthy and Fra-X negative. She is pregnant and insisted on her molecular genetic diagnosis due to an international collaboration. Both affected brothers had FRAXA genes with a full mutation including more than 200 CGG methylated repeats. The consultant female was in the phase of premutation, however, her healthy daughter had two normal 50% methylated genes with 19 and 26 CGG repeats. Thus there is no recurrence risk for Martin-Bell disease in her fetus.
Horváth
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Országos Közegészségügyi Intézet, Humángenetikai és Teratológiai Osztály--WHO "Orökletes Artalmak Társadalmi Megelözése". Együttmüködési Központ, Budapest.
Tímár
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L
Karcagi
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Czeizel
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D000328:Adult; D002675:Child, Preschool; D002873:Chromosome Fragility; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008967:Molecular Biology; D010375:Pedigree; D011247:Pregnancy
A Martin-Bell-kór molekuláris genetikai kórismézésének jelentösége a genetikai tanácsadásban.