Genomic imprinting results in which of the following syndrome?
Correct Answer: Angelman syndrome
Description: Genomic ImprintingImprinting involves transcriptional silencing of the paternal or maternal copies of ceain genes during gametogenesis. For such genes, only one functional copy exists in the individual. Loss of the functional (not imprinted) allele by deletion gives rise to diseases. In Prader- Willi syndrome, deletion of band q12 on long arm of paternal chromosome 15 occurs. Genes in this region of maternal chromosome 15 are imprinted so there is complete loss of their functions. Patients have mental retardation, sho stature, hypotonia, hyperphagia, small hands and feet, and hypogonadism.In Angelman syndrome, there is a deletion of the same region from the maternal chromosome. Since genes on the corresponding region of paternal chromosome 15 are imprinted, these patients have mental retardation, ataxia, seizures, and inappropriate laughter.Ref: Robbins and Cotran Pathologic Basis of Disease; 9th edition; Chapter 5; genetic disorders; Page no: 174
Category:
Pathology
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