Interstitial deletion of chromosome 2q associated with ovarian dysgenesis


*Medical Center Department of Pathology H-720 225 W. Dickinson Street San Diego, CA 92103, USA


In the present report we describe a girl with mental retardation, Dandy-Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.