Which abnormality is found in the abnormally fragile X-chromosome in the fragile X syndrome?

A. translocation
B. deletion
C. imprinting
D. hypermethylation
E. amplification of tandem trinucleotide repeats


E
The fragile site on the X-chromosome in the fragile X syndrome shows an expanded trinucleotide repeat. This finding provides an explanation for the clinical phenomenon known as "anticipation," whereby a hereditary disease becomes more severe with each generation.

Health & Biomechanics

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Health & Biomechanics