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Making chromosome abnormalities treatable conditions
Author(s) -
Cody Jannine DeMars,
Hale Daniel Esten
Publication year - 2015
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31447
Subject(s) - chromosome , genetics , biology , phenotype , computational biology , gene
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. © 2015 Wiley Periodicals, Inc.