Chromosomal anomalies

Types

 constitutional chromosomal anomalies
 somatic chromosomal anomalies

• tumoral 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