Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Vijay Sankaran
PROVIDER: E-GEOD-25678 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Sankaran Vijay G VG Menne Tobias F TF Šćepanović Danilo D Vergilio Jo-Anne JA Ji Peng P Kim Jinkuk J Thiru Prathapan P Orkin Stuart H SH Lander Eric S ES Lodish Harvey F HF
Proceedings of the National Academy of Sciences of the United States of America 20110104 4
Many human aneuploidy syndromes have unique phenotypic consequences, but in most instances it is unclear whether these phenotypes are attributable to alterations in the dosage of specific genes. In human trisomy 13, there is delayed switching and persistence of fetal hemoglobin (HbF) and elevation of embryonic hemoglobin in newborns. Using partial trisomy cases, we mapped this trait to chromosomal band 13q14; by examining the genes in this region, two microRNAs, miR-15a and -16-1, appear as top ...[more]