Use of a molecular genetic approach to diagnosing the fragile X genotype

Nicholas Potter, Carmen B. Lozzio, Ilse J. Anderson, Enid S. Bowlin, Karla Matteson

Research output: Contribution to journalArticle

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Abstract

We report the direct molecular detection of the fragile X genotype in 111 individuals from 17 families with a total of 31 cases of fragile X syndrome. Comparison of our molecular data with our previous cytogenetic and linkage data from these same families indicates the effectiveness of the direct molecular analysis. We have been able to assign a genotype unambiguously in 100% of the persons tested, and in all cases the molecular data correlated with the cytogenetic or linkage findings or both. Two of the three families presented in this study represent inheritance of this gene through normal transmitting males, and the third is strongly suggestive of this mode of inheritance. Our data show that the direct molecular approach will be of great utility for confirmation of the diagnosis and for the detection of female carriers and normal transmitting males who are at high risk for having affected children or grandchildren.

Original languageEnglish (US)
Pages (from-to)385-390
Number of pages6
JournalThe Journal of Pediatrics
Volume121
Issue number3
DOIs
StatePublished - Jan 1 1992

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Molecular Biology
Genotype
Cytogenetics
Fragile X Syndrome
Information Storage and Retrieval
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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Use of a molecular genetic approach to diagnosing the fragile X genotype. / Potter, Nicholas; Lozzio, Carmen B.; Anderson, Ilse J.; Bowlin, Enid S.; Matteson, Karla.

In: The Journal of Pediatrics, Vol. 121, No. 3, 01.01.1992, p. 385-390.

Research output: Contribution to journalArticle

Potter, Nicholas ; Lozzio, Carmen B. ; Anderson, Ilse J. ; Bowlin, Enid S. ; Matteson, Karla. / Use of a molecular genetic approach to diagnosing the fragile X genotype. In: The Journal of Pediatrics. 1992 ; Vol. 121, No. 3. pp. 385-390.
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