title: Interstitial deletion of 4(q21q25) in a liveborn male.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia 19104-4283.
authors.forename: N C
authors.initials: NC
authors.lastname: Rose
authors.forename: A
authors.initials: A
authors.lastname: Schneider
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: C
authors.initials: C
authors.lastname: Caserta
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male