Fragile X syndrome.

Article

Fragile X syndrome.

Advances in pediatrics - 1 Jan 1994

Laxova R

Abstract excerpt

1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene...

Topics

Adult
Base Sequence
Child
Chromosome Fragile Sites
Chromosome Fragility
Clinical Protocols
Connective Tissue Diseases
DNA
Diagnosis, Differential
Female
Folic Acid
Fragile X Syndrome
Gene Amplification
Genetic Linkage
Genetic Markers
Heterozygote
Humans
Male

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