Interstitial deletion of 4(q21q25) in a liveborn male.
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.
Rose
N C
NC
Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia 19104-4283.
Schneider
A
A
McDonald-McGinn
D M
DM
Caserta
C
C
Emanuel
B S
BS
Zackai
E H
EH
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