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Chapter: Pathology: Genetic Disorders

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Genomic Imprinting

Genomic Imprinting
Genomic imprinting refers to differential expression of genes based on chromo-somal inheritance from maternal versus paternal origin.

GENOMIC IMPRINTING

Genomic imprinting refers to differential expression of genes based on chromo-somal inheritance from maternal versus paternal origin.

·            In Prader-Willi syndrome, microdeletion on paternal chromosome 15 {del(15) (q11;q13)} causes intellectual disability, obesity, hypogonadism, and hypotonia.

 

·              In Angelman syndrome, microdeletion on maternal chromosome 15 {del(15) (q11;q13)} causes intellectual disability, seizures, ataxia, and inappropriate laughter.



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