Is there a fragile(X) negative Martin-Bell syndrome?

doi:10.1002/ajmg.1320300149

Back to search

Article

Is there a fragile(X) negative Martin-Bell syndrome?

American journal of medical genetics - 1 Jan 2000

Thode A, Laing S, Partington M W, Turner G

Abstract excerpt

During the course of the preventative screening program for the fra(X) syndrome, we identified 32 men with the phenotype but who were fra(X) negative. These were reviewed and none fitted the full criteria, so we were unable to confirm the existence of the fra(X) negative Martin-Bell syndrome. The...

Topics

Adult
Aged
Fragile X Syndrome
Genetic Linkage
Humans
Intellectual Disability
Male
Middle Aged
Pedigree
Phenotype
Sex Chromosome Aberrations
X Chromosome

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.