Making chromosome abnormalities treatable conditions

Research output: Contribution to journalArticlepeer-review

Abstract

Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions.

Original languageEnglish (US)
Pages (from-to)209-215
Number of pages7
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume169
Issue number3
DOIs
StatePublished - Sep 1 2015

Keywords

  • Chromosome abnormalities
  • Gene dosage
  • Haploinsufficiency
  • Hemizygosity

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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