Phenotypic expression of a gene depending on the parent of origin is referred to as _______
The phenomenon referred to as genomic imprinting leads to phenotypic expression of a gene depending on parenteral origin. Genomic imprinting: epigenetic process, that selectively inactivates either the maternal or paternal allele. These defects include Beckwith-Wiedemann syndrome Silver Russell syndrome Angelman syndrome Prader willi syndrome Uniparental disomy: This refers to the situation in which two copies of a chromosome come from the same parent, instead of one from each parent. Eg., Angelman syndrome and Prader Willi syndrome Prader-Willi syndrome AngelMan Syndrome Deletions (70% cases) Deletion of paternal genes after maternal gene silencing Deletion of maternal genes after paternal gene silencing Uniparental disomy (UPD) (30%) UPD of maternal chromosome 15 UPD of parenteral chromosome 15 Mosaicism: Describes an individual cell or tissue that contains >2 cell lines derived from a single zygote as a result of mitotic non-disjunction Ref: Nelson textbook of pediatrics 21st edition Pgno: 649
Genomic imprinting
Mosaicism
Anticipation
Nonpenetrance
Genetic and genetic disorders