often resulting in a frameshift Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome is flipped and reinserted Opitz-Kaveggia syndrome Deletion A region of a chromosome is ...

As opposed to gene-level mutations, mutations that alter longer stretches of DNA (ranging from multiple genes up to entire chromosomes) are called chromosomal mutations. These mutations often have ...

The principles of numerical chromosomal abnormalities as related to trisomies are reviewed. An abnormal development of the forebrain, holoprosencephaly, is the most common cranial abnormality in ...

Previous work by the laboratory identified a "genomic spellchecker," a DNA repair mechanism devoted to reducing mutation risks in key parts of human chromosomes. Building upon these findings ...

[44] Patients carrying no or only numerical chromosomal alterations (group ... approaches for neuroblastoma patients. Activating mutations in the ALK oncogene could form the genetic basis of ...