Trisomy 8: Difference between revisions
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Trisomy 8 or Warkany Syndrome 2 is a [[Chromosome|chromosomal]] abnormality where three copies of the [[Chromosome 8|8th chromosome]] are inherited. It can be a complete trisomy 8 that is lethal and causes early miscarriage or can be a mosaic Trisomy 8, where the person survives childhood and adulthood and bears a wide range of symptoms such as [[eye|eye]], [[kidney|kidney]], [[heart|heart]], [[muscle|muscle]] and skeletal abnormalities, distinctive facial characteristics such as widely spaced eyes, prominent forehead and skull. The Trisomy is the result of nondisjunction during [[meiosis|meiosis]] either during or after fertilisation<ref>GARD, Mosaic Trisomy 8,[cited 5/24/16]fckLRAvailable fromfckLRhttps://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8</ref>. | |||
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Latest revision as of 09:09, 22 October 2017
Trisomy 8 or Warkany Syndrome 2 is a chromosomal abnormality where three copies of the 8th chromosome are inherited. It can be a complete trisomy 8 that is lethal and causes early miscarriage or can be a mosaic Trisomy 8, where the person survives childhood and adulthood and bears a wide range of symptoms such as eye, kidney, heart, muscle and skeletal abnormalities, distinctive facial characteristics such as widely spaced eyes, prominent forehead and skull. The Trisomy is the result of nondisjunction during meiosis either during or after fertilisation[1].
References
- ↑ GARD, Mosaic Trisomy 8,[cited 5/24/16]fckLRAvailable fromfckLRhttps://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8