Infants born with the MDS have distinct facial appearances. However, everyone with Mosaic Down syndrome does not have the similar features but these are very common. The facial features are flattened, and the head is considerably smaller than the normal size. The neck also appears smaller than n...
syndrome expression. First, most Down cases are diagnosed prior to birth or at birth. Mosaicism may not be diagnosed until children are between 1 and 4. It’s also the case that Mosaic Down syndrome is much rarer than standard Trisomy 21. An estimated 3% of Downs’s cases show mosaicism....
This individual is likely to demonstrate both features of Turner's syndrome and Trisomy 21 although previous reports on Turner/Trisomy 21 polysyndrome mosaicism suggest that phenotypic features of Downs Syndrome predominates.doi:10.1136/archdischild-2016-310863.467McCarthy, K...