These abnormalities may translate to the development ... Trisomy 13 or Patau syndrome, is caused by an extra copy of chromosome 13. The syndrome can cause severe intellectual disability as well ...

An example of a balanced structural change is the Philadelphia chromosome translocation previously described. In that case, although genetic information was rearranged into an abnormal gene ...

Each chromosome pair viewed in a karyotype appears to have its own distinct "bar code" of bands. What changes do scientists look for in a karyotype when diagnosing diseases and disorders?

Expert Rev Mol Diagn. 2013;13(6):601-611. In other situations, normal microarray analysis in the presence of an abnormal karyotype, such as marker chromosomes, is reassuring, as it indicates that ...