publication . Doctoral thesis . 2003

Characterization of human chromosome 22 : Cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional delections by microarray CGH

  • Published: 26 Mar 2003
  • Country: Sweden
Abstract
Chromosome 22 is the second smallest human chromosome, composing approximately 1.5% of the genome. The short arm of this acrocentric chromosome harbors ribosomal genes and the long arm contains the protein coding genes. This chromosome is gene-rich in comparison to the majority of other chromosomes, containing approximately 600 so far characterized genes. Many of these are involved in the etiology of a wide spectrum of diseases such as congenital and psychiatric disorders as well as cancers. The constitutional translocation t(11;22) is the most common reciprocal translocation in humans. This translocation is often found in families but can also occur de novo. Tr...
Any information missing or wrong?Report an Issue