Chromosomal anomalies

Last revised by Dr Yuranga Weerakkody on 11 Jan 2020

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:

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