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 language||English (US)|
|Number of pages||7|
|Journal||American Journal of Medical Genetics, Part C: Seminars in Medical Genetics|
|State||Published - Sep 1 2015|
- Chromosome abnormalities
- Gene dosage
ASJC Scopus subject areas