Warkany syndrome 2

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]


Wikimedia Foundation. 2010.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Warkany syndrome — Two distinct congenital syndromes were named after Joseph Warkany, an Austrian American geneticist and pediatrician, 1902 1992. Contents 1 Warkany syndrome 1 2 Warkany syndrome 2 (trisomy 8) 3 References …   Wikipedia

  • Warkany-Syndrom — Als Warkany Syndrom werden zwei Syndrome beschrieben: Als Warkany Syndrom 1 wird ein auf dem X Chromosom gelegener Gendefekt mit rezessivem Erbgang bezeichnet. Als Warkany Syndrom 2 wird die Mosaik Trisomie 8 bezeichnet. Benannt wurden beide… …   Deutsch Wikipedia

  • Syndrome de Warkany — Le syndrome de Warkany, aussi appelé trisomie 9 est une maladie chromosomique congénitale provoquée par la présence d un chromosome surnuméraire pour la 9e paire. Les personnes atteintes de trisomie 9 mosaïque peuvent vivre comme les personnes… …   Wikipédia en Français

  • Down syndrome — Classification and external resources Boy with Down syndrome assembling a …   Wikipedia

  • Joseph Warkany — (1902 1992) was an Austrian American pediatrician known as the father of teratology . [cite journal |author=Willhite C |title=Josef Warkany |journal=Toxicol. Sci. |volume=58 |issue=2 |pages=220–1 |year=2000 |pmid=11099634 |doi=10.1093/toxsci/58.2 …   Wikipedia

  • Fragile X syndrome — Classification and external resources Location of FMR1 gene ICD 10 Q99.2 …   Wikipedia

  • DiGeorge syndrome — 22q11.2 deletion syndrome Classification and external resources Brain computer tomography cuts of t …   Wikipedia

  • XYY syndrome — Not to be confused with XXY (2 X s, Klinefelter s syndrome). XYY syndrome Classification and external resources Y chromosome ICD 10 Q …   Wikipedia

  • Patau syndrome — Classification and external resources Chromosome 13 ICD 10 Q91.4 Q …   Wikipedia

  • Prader–Willi syndrome — Prader Willi syndrome Classification and external resources ICD 10 Q87.1 ICD 9 759.81 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”