Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects
نویسندگان
چکیده
منابع مشابه
Epigenetic inheritance associated with human chromosome 14.
Within the last decade, there has been sufficient evidence to support the association of epigenetic inheritance or genomic imprinting on human chromosome 14. This has been achieved with studies of imprinting on both human chromosome 14 and mouse chromosome 12, which has the largest homology to human chromosome 14. Initial studies with mouse chromosome 12 aberrations suggested that specific phen...
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Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...
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