Abstract:
: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.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Horváth M,Tímár L,Karcagi V,Czeizel Esubject
Has Abstractpub_date
1997-03-02 00:00:00pages
541-5issue
9eissn
0030-6002issn
1788-6120journal_volume
138pub_type
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