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Article

Clinical screening score for the fragile X (Martin-Bell) syndrome.

American journal of medical genetics - 1 Jan 2000

Laing S, Partington M, Robinson H, Turner G

Abstract excerpt

A clinical score based on the manifestations of the fragile(X) syndrome has been formulated and applied to all individuals included in a fragile(X) case finding program in New South Wales. The total score can vary from 0 to 10. Individuals are scored 0, 1, or 2 in each of 5 categories considered indicative of the fragile(X) phenotype: family history of intellectual handicap, face length, ear configuration,...

Topics

Cross-Sectional Studies
Evaluation Studies as Topic
Female
Fragile X Syndrome
Genetic Testing
Humans
Intellectual Disability
Male
New South Wales
Phenotype
Physical Examination

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Predictive Value of Tests

Source

Identifiers

PMID: 2018069
DOI: 10.1002/ajmg.1320380219

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2018069-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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