A 1-year-old boy is described with multiple congenital anomalies localised mainly on the left side of the body. In fibroblast culture taken from this (abnormal) side an E-trisomy was found in 82% of the cells while in the cultures taken from the other side of the body aneuploidy was found in only 12% of the cells. Some cytogenetical questions concerning this case and two similar cases published earlier in the literature are discussed.
- Chromosomal mosaicism
- Unilateral congenital malformations
ASJC Scopus subject areas