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Warkany syndrome 2

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Warkany syndrome 2

Not to be confused with Warkany syndrome 1.
Trisomy 8
Classification and external resources
10 9 DiseasesDB MeSH D014314

Trisomy 8, also known as Warkany syndrome 2,[1] is a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without mosaicism.

Characteristics

Complete trisomy 8 causes severe effects on the developing fetus and can be a cause of miscarriage.[2] Complete trisomy 8 is usually an early lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay.[3][4] Individuals with trisomy 8 mosaicism are more likely to survive into childhood and adulthood, and exhibit a characteristic and recognizable pattern of developmental abnormalities. 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.[5] A deep plantar furrow is considered to be pathognomonic of this condition, especially when seen in combination with other associated features.[6] The type and severity of symptoms are dependent upon the location and proportion of trisomy 8 cells compared to normal cells.

Other conditions

Trisomy 8 mosaicism affects wide areas of chromosome 8 containing many genes, and can thus be associated with a range of symptoms.

  • Small regions of chromosome 8 trisomy and monosomy are also created by recombinant chromosome 8 syndrome (San Luis Valley syndrome), causing anomalies associated with tetralogy of Fallot, which results from recombination between a typical chromosome 8 and one carrying a parental paracentric inversion.[10]

References

External links

  • U.S. National Library of Medicine: Warkany Syndrome 2
ca:Trisomia 8

de:Trisomie 8 es:Trisomía 8 nl:Trisomie 8

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