FURTHER CONTRIBUTION TO THE DESCRIPTION OF PHENOTYPES ASSOCIATED WITHPARTIAL 4Q DUPLICATION

We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromoso mal material on 4q was unequivocally established by fluorescent in sit u hybridization with a chromosome 4 painting probe. Clinical manifesta tions included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which m ay be involved in the development of the acrorenal field. (C) 1995 Wil ey-Liss, Inc.