Warkany syndrome
Trisomy 8 mosaicism or Warkany syndrome is less severe variant of trisomy 8 and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. They are more likely to survive into childhood and adulthood but can exhibit a characteristic and recognisable pattern of developmental abnormalities.
Associations
Some reported associations include
- mosaic trisomy 8 has been reported in rare cases of Rothmund–Thomson syndrome,
- some individuals trisomic for chromosome 8 can deficient in production of coagulation factor VII due to a factor 7 regulation gene (F7R) mapped to 8p23.3-p23.1.
- rearrangements of chromosome 8 can be found in tricho–rhino–phalangeal syndrome.
- some cases of chronic myeloid leukemia
- some cases of acute myeloid leukemia