The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations


Accurate interpretation of genomic copy number variation (CNV) remains a challenge and has important consequences for both congenital and late-onset disease. Hemizygosity dosage characterization of the genes on chromosome 18 reveals a spectrum of outcomes ranging from no clinical effect, to risk factors for disease, to both low- and high-penetrance disease. These data are important for accurate and predictive clinical management. Additionally, the potential mechanisms of reduced penetrance due to dosage compensation are discussed as a key to understanding avenues for potential treatment. This review describes the chromosome 18 findings, and discusses the molecular mechanisms that allow haploinsufficiency, reduced penetrance, and dosage compensation.

Original languageEnglish (US)
Pages (from-to)764-776
Number of pages13
JournalTrends in Genetics
Issue number10
StatePublished - Oct 2020


  • chromosome abnormality
  • gene dosage
  • haploinsufficiency
  • hemizygosity
  • penetrance

ASJC Scopus subject areas

  • Genetics


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