Rose N C, Schneider A, McDonald-McGinn D M, Caserta C, Emanuel B S, Zackai E H
Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia 19104-4283.
Am J Med Genet. 1991 Jul 1;40(1):77-9. doi: 10.1002/ajmg.1320400115.
We describe a liveborn male with a de novo deletion of 4(q21q25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar break-points. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, "butterfly" vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.
