Warkany syndrome 2

Warkany syndrome 2, also known as trisomy 8, is a chromosomal aberration that has severe effects on the fetus.

Trisomy is also found in some cases of chronic myeloid leukaemia, potentially as a result of karyotypic instability caused by the fusion gene.

Presentation

Complete trisomy 8 frequently results in miscarriage, while those with "trisomy 8 mosaicism" are more likely to survive. Common findings include retarded psychomotor development, moderate to severe mental retardation, variable growth patterns which can result in either abnormally short or tall stature, an expressionless face, and many musculoskeletal, visceral, and eye abnormalities, as well as other anomalies. [cite journal |author=Riccardi VM |title=Trisomy 8: an international study of 70 patients |journal=Birth Defects Orig. Artic. Ser. |volume=13 |issue=3C |pages=171–84 |year=1977 |pmid=890109 |doi=] The type and severity of symptoms are dependent upon the location and proportion of trisomy 8 cells compared to normal cells. Complete trisomy 8 is often an early lethal condition, whereas mosaic individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. [Jones, K. L. (2005). Smith's Recognizable Patterns of Human Malformation. (6th ed.). Philadelphia: W. B. Sanders Company.]

It was discovered by Joseph Warkany.

References

External links

* [http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome140.html U.S. National Library of Medicine]