All are seen in Fragile X syndrome except
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
Testicular enlargement is seen
Cause of mental retardation
Trinucleotide repeat mutations are present
Genomic imprinting
JIPMER 2018