[The importance of molecular genetic diagnosis of Martin-Bell disease in genetic counseling].

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 Hetil

journal_title

Orvosi hetilap

authors

Horváth M,Tímár L,Karcagi V,Czeizel E

subject

Has Abstract

pub_date

1997-03-02 00:00:00

pages

541-5

issue

9

eissn

0030-6002

issn

1788-6120

journal_volume

138

pub_type

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