A Case of Familial Chromosomal Aberration with G Group Mosaic

Abstract
A familial mosaicism involving chromosomes of group A. The father shows two clones: 46/normal and 47/trisomy A; the mother, 46/normal and 45/monosomy A. The two children are three clone mosaics: 45/monosomy A, 46/normal, 47/trisomy A. Only one of the children is phenotypically abnormal: the other three members of the family have a normal appearance. Relationship between karyotype and malformations is discussed. A tentative explanation is suggested.