Chromosomal Mosaic in a Girl with some Features of Mongolism

Abstract
Chromosomal mosaic of the normal/trisomy 21 type was found in a two year old girl. The patient had some of the symptoms characteristic of mongolism but was of average intelligence. The mosaic pattern was found consistently in two blood and three skin cultures. On the basis of the few similar cases reported it is not possible as yet to correlate the phenotype with the relative proportions of the different karyotypes found at cytological analysis.