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Related Concept Videos

Imprinting01:22

Imprinting

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Behavioral imprinting is observed in some newborn animals and occurs when they develop strong and specific attachments to another animal (usually a parent) following brief, early-life exposures. Offspring imprint onto parents within a brief period after birth or hatching; this time window is called the critical period. Once imprinting occurs, the bond established between the parents and their offspring is usually long-lasting.
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Related Experiment Video

Updated: Jun 16, 2026

FISH for Pre-implantation Genetic Diagnosis
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FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Prenatal testing for imprinting disorders: A laboratory perspective.

Jasmin Beygo1, Silvia Russo2, Pierpaola Tannorella2

  • 1Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

Prenatal Diagnosis
|June 21, 2023
PubMed
Summary

Imprinting Disorders (ImpDis) present diagnostic challenges due to overlapping symptoms and mosaicism. Prenatal testing requires careful consideration of limitations and clinical guidance.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Diagnostics

Background:

  • Imprinting Disorders (ImpDis) are congenital syndromes caused by molecular disturbances in imprinted genes.
  • These disorders exhibit monoallelic, parent-of-origin specific gene expression, with distinct genetic sites and clinical signs.
  • Overlapping clinical features and non-specific prenatal signs complicate diagnosis.

Purpose of the Study:

  • To address the challenges in molecular testing strategies for Imprinting Disorders.
  • To highlight the difficulties associated with prenatal diagnosis of ImpDis.
  • To provide guidance on diagnostic workup and clinical management.

Main Methods:

  • Review of molecular characteristics of Imprinting Disorders.
  • Analysis of diagnostic challenges, including (epi)genetic mosaicism.
  • Evaluation of prenatal testing limitations and fetal imaging utility.

Main Results:

  • Imprinting Disorders share overlapping features, making prenatal diagnosis difficult.
  • (Epi)genetic mosaicism poses significant challenges for accurate prenatal testing.
  • False-negative results are possible, emphasizing reliance on fetal imaging for management decisions.

Conclusions:

  • Prenatal testing for Imprinting Disorders is complex due to molecular and clinical factors.
  • Fetal imaging is crucial for pregnancy management decisions.
  • Collaborative discussions between clinicians, geneticists, and families are essential before initiating prenatal molecular testing.