Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.

Abstract excerpt

Fragile X, Huntington disease, and myotonic dystrophy type 1 are prototypical examples of human disorders caused by short tandem repeat variation, repetitive nucleotide stretches that are highly mutable both in the germline and somatic tissue. As short tandem repeats are unstable, they can expand, contract, and acquire and lose epigenetic marks in somatic tissue. This means within an individual, the genotype and...

Topics

• Humans
• Mosaicism
• Myotonic Dystrophy
• Huntington Disease
• Microsatellite Repeats
• Fragile X Syndrome
• Phenotype