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.

Original languageHungarian
Pages (from-to)541-545
Number of pages5
JournalOrvosi Hetilap
Volume138
Issue number9
Publication statusPublished - Mar 2 1997

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Genetic Counseling
Consultants
Molecular Biology
Nuclear Family
Mentally Disabled Persons
X Chromosome
Marriage
Genes
Siblings
Fetus
Recurrence
Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A Martin-Bell-kór molekuláris genetikai kórismézésének jelentösége a genetikai tanácsadásban. / Horváth, M.; Tímár, L.; Karcagi, V.; Czeizel, E.

In: Orvosi Hetilap, Vol. 138, No. 9, 02.03.1997, p. 541-545.

Research output: Contribution to journalArticle

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