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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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Updated: Sep 30, 2025

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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Pigmentary mosaicism.

Julie V Schaffer1

  • 1Division of Pediatric Dermatology, Hackensack Meridian School of Medicine, Hackensack, New Jersey, USA.

Clinics in Dermatology
|March 15, 2022
PubMed
Summary
This summary is machine-generated.

Pigmentary mosaicism involves skin color variations due to genetic differences in skin cells. This review updates knowledge on its causes, appearance, associated conditions, and management, aiding diagnosis.

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Area of Science:

  • Dermatology
  • Clinical Genetics
  • Medical Genetics

Background:

  • Pigmentary mosaicism presents as patterned hypo- and/or hyperpigmentation.
  • Common patterns include streaks, swirls along Blaschko's lines, and block-like distributions.
  • It arises from genetic heterogeneity within skin cells.

Purpose of the Study:

  • To provide an updated overview of pigmentary mosaicism.
  • To discuss genetic etiologies, clinical findings, and extracutaneous abnormalities.
  • To outline diagnostic and management strategies.

Main Methods:

  • Review of current scientific literature and clinical observations.
  • Analysis of genetic testing technologies and their applications.
  • Reappraisal of classic patterns based on scientific advances.

Main Results:

  • Highlights diverse genetic causes and distinct clinicogenetic entities.
  • Details cutaneous findings and potential extracutaneous associations.
  • Provides practical diagnostic clues and differential diagnosis considerations.

Conclusions:

  • Emphasizes the importance of updated terminology and clinicogenetic correlations.
  • Stresses the role of advanced genetic testing in diagnosis.
  • Offers a practical approach for evaluating patients with pigmentary mosaicism.