There are large number of recognised chromosomal anomalies (many with eponymous names). When there is a change in the absolute number of chromosomes these are sub grouped as aneuploidic anomalies.
They can cause variable handicap - outcome ranging from some having no effect (in some balanced translocations) to others being fatal.
The 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
- trisomy 8 / trisomy 8 mosaic
- 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
This article is in need of some more references!
You can make a difference to Radiopaedia.org by adding some relevant ones.
- 1. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 2. Milunsky A, Milunsky J. Genetic Disorders and the Fetus, Diagnosis, Prevention and Treatment. Blackwell Pub. (2010) ISBN:1405190876. Read it at Google Books - Find it at Amazon
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|