Dicentric chromosome

A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome segments, each with a centromere, resulting in the loss of acentric fragments (lacking a centromere) and the formation of dicentric fragments.[1] The formation of dicentric chromosomes has been attributed to genetic processes, such as Robertsonian translocation[1] and paracentric inversion.[2] Dicentric chromosomes have important roles in the mitotic stability of chromosomes and the formation of pseudodicentric chromosomes.[1][3] Their existence has been linked to certain natural phenomena such as irradiation and have been documented to underlie certain clinical syndromes, notably Kabuki syndrome.[3][4] The formation of dicentric chromosomes and their implications on centromere function are studied in certain clinical cytogenetics laboratories.[5]

  1. ^ a b c Nussbaum, Robert; McInnes, Roderick; Willard, Huntington; Hamosh, Ada (2007). Thompson & Thompson Genetics in Medicine. Philadelphia(PA): Saunders. p. 72. ISBN 978-1-4160-3080-5.
  2. ^ Hartwell, Leland; Hood, Leeroy; Goldberg, Michael; Reynolds, Ann; Lee, Silver (2011). Genetics From Genes to Genomes, 4e. New York: McGraw-Hill. ISBN 9780073525266.
  3. ^ a b Lynch, Sally; et al. (1995). "Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13". J. Med. Genet. 32 (32:227–230): 227–230. doi:10.1136/jmg.32.3.227. PMC 1050324. PMID 7783176.
  4. ^ Cite error: The named reference :3 was invoked but never defined (see the help page).
  5. ^ Cite error: The named reference :4 was invoked but never defined (see the help page).