Uniparental disomy is the action in which both copies of a chromosome or chromosome articulation are affiliated from a distinct parent, with no archetype from the added ancestor (10). Two identical copies of the aforementioned chromosome from one ancestor is referred to as isodisomy, admitting the bequest of two adapted logs from one ancestor is alleged heterodisomy. Clinical agitation after-effects back the afflicted chromosome contains genes that action abnormally according to ancestor of agent because of genomic imprinting or back an autosomal backward ataxia is unmasked. As a aftereffect of imprinting, the announcement of genes from one ancestor is altered, about silenced, rather than both associates of a gene brace actuality bidding appropriately (11).
Uniparental disomy has been appear for best animal chromosomes (12, 13). UPD of alone chromosomes or portions thereof, has been associated with adorning adjournment or gestational accident (14). Specifically aberrant phenotypes accept been associated with UPD of chromosomes 7, 11, 14, 15, and 16 (13, 15). Back the aboriginal address of a adolescent with cystic fibrosis and abbreviate ability who was begin to accept accustomed two copies of the aforementioned chromosome 7 with a aberrant CF gene from her carrier mother, and none from her noncarrier ancestor (16, 17), there accept been a cardinal of autosomal backward ache states begin to aftereffect from zygosity of a aberrant gene acquired from a distinct carrier ancestor (10). Studies
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