Warkany syndrome 2

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Warkany syndrome 2, also known as chromosome 8 trisomy syndrome or trisomy 8,[1] is an aberration of human chromosome 8 that results in trisomy of the chromosome. This causes severe effects on the developing fetus.

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

Characteristics

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.[2] 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.[3]

It was discovered by Joseph Warkany.

References

External links

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