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Pathology NEET 2019 c449c8d2

Which of the following is true about Fragile X syndrome?

A
Triple nucleotide CAG Sequence mutation
B
10% female carriers are mental disability
C
Affected males have IQ of 20-40
D
Micro-orchidism in affected males
High-Yield Explanation
Fragile X syndrome Long repeating sequence of three nucleotides. 2nd most common genetic cause of mental retardation after Down syndrome. It is caused by a trinucleotide mutation in the familial mental retardation-1 (FMR1) gene (CGG Repeat). Affected males are mentally retarded, with an IQ in the range of 20 to 60. Characteristic physical phenotype -Large mandible, large eveed ears, and large testicles (macro-orchidism). The most distinctive feature is macro-orchidism in at least 90% of affected post pubeal males. Thiy percent to 50% of carrier females are affected (i.e., have intellectual disability. etc.)

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