TY - JOUR
T1 - Making chromosome abnormalities treatable conditions
AU - Cody, Jannine Demars
AU - Hale, Daniel Esten
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/9/1
Y1 - 2015/9/1
N2 - 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.
AB - 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.
KW - Chromosome abnormalities
KW - Gene dosage
KW - Haploinsufficiency
KW - Hemizygosity
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U2 - 10.1002/ajmg.c.31447
DO - 10.1002/ajmg.c.31447
M3 - Article
C2 - 26351122
AN - SCOPUS:84941264916
SN - 1552-4868
VL - 169
SP - 209
EP - 215
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 3
ER -