Cody Jannine DeMars, Hale Daniel Esten
Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):209-15. doi: 10.1002/ajmg.c.31447.
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.
那些在遗传学时代初期首次被鉴定出患有典型染色体缺失综合征的个体,如今有望从基因组学进展中获益。本期重点介绍其中五种病症(4p-、5p-、11q-、18p-和18q-)。它聚焦于对分子基础认识的加深,并展望如何将这些认识转化为有效的治疗方法。虽然看到半合子的表型表现越来越多地在分子和细胞水平上得到理解在科学上令人兴奋,但更令人惊奇的是,我们现在正朝着使染色体异常成为可治疗病症的方向迈进。