Chromosomal anomalies

Dr Yuranga Weerakkody and Radswiki et al.

There are a large number of recognized chromosomal anomalies (many with eponyms). When there is a change in the absolute number of chromosomes these are subgrouped as aneuploidic anomalies.

They can cause a variable degree of disability with outcomes ranging from no effect (in some balanced translocations) to others being lethal or resulting in a markedly shortened life expectancy (unless mosaicism present).

This (non-exhaustive) list includes:

Article information

rID: 14639
Section: Syndromes
Tag: refs
Synonyms or Alternate Spellings:
  • Chromosomal abnormality
  • Chromosomal disease
  • Chromosomal diseases
  • Chromosomal abnormalities
  • Chromosomal anomaly

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