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Article

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

The Journal of pediatrics - 1 Sept 1992

Potter N T, Lozzio C B, Anderson I J, Bowlin E S, Matteson K J

Abstract excerpt

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...

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Identifiers

PMID: 1517912
DOI: 10.1016/s0022-3476(05)81790-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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