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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...

Topics

Blotting, Southern
Cytogenetics
Female
Fragile X Syndrome
Genetic Carrier Screening
Genetic Linkage
Genotype
Humans
Male
Pedigree

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1517912-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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