A Martin-Bell-kór molekuláris genetikai kórismézésének jelentösége a genetikai tanácsadásban.

Translated title of the contribution: The importance of molecular genetic diagnosis of Martin-Bell disease in genetic counseling

M. Horváth, L. Tímár, V. Karcagi, E. Czeizel

Research output: Contribution to journalArticle

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.

Translated title of the contributionThe importance of molecular genetic diagnosis of Martin-Bell disease in genetic counseling
Original languageHungarian
Pages (from-to)541-545
Number of pages5
JournalOrvosi hetilap
Volume138
Issue number9
Publication statusPublished - Mar 2 1997

ASJC Scopus subject areas

  • Medicine(all)

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