Home > B. Cellular pathology > Chromosomes > Chromosomal anomalies

Chromosomal anomalies

Wednesday 31 May 2006

Types

- constitutional chromosomal anomalies
- somatic chromosomal anomalies

Types

- chromosomal numerical anomalies

  • trisomy | +13 or +21
  • tetrasomy
  • monosomy | -22

- chromosomal structural anomalies (chromosomal rearrangements)

  • translocation | t(9;22)(q34;q11))
  • insertion | ins(5;2)(p14;q22q32) or ins(2)(q13p13p23)
  • inversion | inv(3)(q26q29)
  • deletion | del(1)(q23)
  • duplication | dup(1)(q21q31)
  • isochromosome | i(5p) or i(5)(p10)
  • ring chromosome
  • marker chromosome: add(19)(p13)
  • derivative chromosome

Consequences

- chromosomal diseases

  • maldevelopment
    • malformative syndromes

- tumors

See also

- constitutional chromosomal anomalies

  • chromsomal diseases

- tumoral chromosomal anomalies

References

- Emanuel BS, Saitta SC. From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet. 2007 Nov;8(11):869-83. PMID: 17943194