How imprinting is relevant to human disease.
Genomic imprinting appears to be a ubiquitous process in mammals involving many chromosome segments whose affects are dependent on their parental origin. One of the challenges for clinical geneticists is to determine which disorders are manifesting imprinting effects and which families are affected. Re-evaluation of cases of chromosomal abnormalities and family histories of disease manifestations should give important clues. Examination of the regions of human chromosomes homologous to mouse imprinted chromosomal regions may yield useful information. Cases of discordance in monozygous twins may also provide important insights into imprinted modification of diseases.
Hall
J G
JG
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
D000818:Animals; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D010641:Phenotype; D009626:Terminology as Topic; D014430:Twins, Monozygotic / Q000235:genetics