TY  - JOUR
AU  - Mackay, Deborah
AU  - Tümer, Zeynep
AU  - Eggermann, Thomas
PY  - 2018
DA  - 2018/08/30
TI  - Uniparental Disomy and Imprinting Disorders
JO  - OBM Genetics
SP  - 031
VL  - 02
IS  - 03
AB  - Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosaic UPD. Though its general frequency is unknown, it becomes clinically relevant when it produces homozygosity for recessive pathogenic  variations, or is associated with chromosomal imbalances; but its most prominent feature is the association of specific UPDs with imprinting disorders. Beyond its clinical and diagnostic significance, detection of UPD has value for research in the identification of putative disease mechanisms and genomic regions of interest.  Furthermore, detection of UPD in a cluster of similar clinical cases can lead to definition of new genetic syndromes and imprinted loci, thereby elucidating imprinting regulation and epigenetic mechanisms in general. In this review, we will focus on constitutional UPDs originating from meiotic and early postzygotic nondisjunction events and their relevance for imprinting disorders.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1803031
DO  - 10.21926/obm.genet.1803031
ID  - Mackay2018
ER  -