chromosomal anomalies

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:

• 1p36 deletion syndrome
• 11q deletion syndrome - Jacobsen syndrome
• 12p tetrasomy - Pallister-Killian syndrome
• 4p deletion syndrome - Wolf-Hirschhorn syndrome
• 17p deletion syndrome - Miller Dieker syndrome
• 18q deletion syndrome
• Klinefelter syndrome
• triploidy
• trisomy 2 mosaic
• trisomy 3 mosaic
• trisomy 4 mosaic
• trisomy 5 mosaic
• trisomy 6 mosaic
• trisomy 7 mosaic
• trisomy 8 / trisomy 8 mosaic - Warkany syndrome
• trisomy 9 / trisomy 9 mosaic
• trisomy 10 / trisomy 10 mosaic
• trisomy 13 - Patau syndrome
• trisomy 18 - Edward syndrome
• trisomy 21 - Down syndrome
• trisomy 22 / trisomy 22 mosaic
• monosomy X - Turner syndrome