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A fragile X case with an amplification/deletion mosaic pattern
D García Arocena1, Y de Diego, B A Oostra
1Depto de Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay. dgarcia@lobbm.fmed.edu.uy
Human Genetics
|May 8, 2000
Summary
Fragile X syndrome, a common cause of hereditary intellectual disability, involves FMR1 gene CGG repeat expansion. This study details a unique case with both a full mutation and a deletion in the FMR1 gene.
Area of Science:
- Genetics
- Molecular Biology
- Neurodevelopmental Disorders
Background:
- Fragile X syndrome is the most common inherited cause of intellectual disability.
- The FMR1 gene's CGG repeat expansion is a "dynamic mutation" causing over 12 genetic diseases.
- Dynamic mutations involve unstable alleles that expand or contract over generations.