Ontology highlight
ABSTRACT:
SUBMITTER: Arbogast T
PROVIDER: S-EPMC4457029 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Arbogast Thomas T Raveau Matthieu M Chevalier Claire C Nalesso Valérie V Dembele Doulaye D Jacobs Hugues H Wendling Olivia O Roux Michel M Duchon Arnaud A Herault Yann Y
Disease models & mechanisms 20150416 6
Partial monosomy 21 (PM21) is a rare chromosomal abnormality that is characterized by the loss of a variable segment along human chromosome 21 (Hsa21). The clinical phenotypes of this loss are heterogeneous and range from mild alterations to lethal consequences, depending on the affected region of Hsa21. The most common features include intellectual disabilities, craniofacial dysmorphology, short stature, and muscular and cardiac defects. As a complement to human genetic approaches, our team has ...[more]