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Genomic imprinting: concept and clinical consequences.

M Mannens1, M Alders

  • 1Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands. m.a.mannens@amc.uva.nl

Annals of Medicine
|April 29, 1999
PubMed
Summary

Genomic imprinting, a genetic phenomenon where gene expression depends on parental origin, deviates from Mendel

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Area of Science:

  • Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • Genomic imprinting describes parent-of-origin-specific gene expression, a phenomenon not explained by classical Mendelian genetics.
  • Deviations from normal imprinting patterns can result in various clinical disorders, impacting development and health.

Purpose of the Study:

  • To elucidate the fundamental principles governing genomic imprinting.
  • To review well-characterized clinical disorders linked to aberrant genomic imprinting.

Main Methods:

  • Review of established genetic principles.
  • Analysis of clinical case studies and genetic data related to imprinting disorders.

Main Results:

  • Genomic imprinting involves parent-specific silencing or expression of genes.
  • Aberrant imprinting is associated with conditions such as tumors, growth abnormalities, intellectual disability, and autism spectrum disorders.

Conclusions:

  • Understanding genomic imprinting is crucial for genetic counseling due to its non-Mendelian inheritance patterns.
  • Genomic imprinting plays a significant role in human development and disease pathogenesis.

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