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Pathology JIPMER 2018 be091c85

All are seen in Fragile X syndrome except

A
Testicular enlargement is seen
B
Cause of mental retardation
C
Trinucleotide repeat mutations are present
D
Genomic imprinting
High-Yield Explanation
D- Genomic imprinting Fragile X-syndrome is trinucleotide repeat mutation disorder a CGG repeat Features: Enlarged mandible Macro - orchids Large eveed ears Mental retardation Other option B- Genomic imprinting is seen classically in Prader - Willi syndrome & Angelman Syndrome. Prader - Willi Syndrome Angelman Syndrome Deletion of band q.12 on long arm of paternal chromosome 15. Genes in this region of maternal chromosome 15 are already imprinted. - complete loss of functions Deletion of same region form maternal chromosome., paternal genes on ch15 are imprinted MR, Sho-stature, hypotonia, hyperphagia, small hands & feet hypogonadism MR, ataxia seizures inappropriate laughter

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