FMR1 CGG repeat numbers are reported:
Normal: <50 repeats Accurate sizing for alleles >90 repeats is not possible. See Interpretation. |
The classic fragile X syndrome phenotype is male mental retardation to varying degrees, mild dysmorphic (abnormal-appearing) features, and enlargement of the testes in adults. Female heterozygotes may also be affected, depending on the pattern of X-inactivation in the brain.
Genetics - Molecular Pathology
MOLP
FMR1 CGG repeat
FXTAS
POF
Premature ovarian failure
4 weeks
5138