Mild phenotypic manifestation of a 7p15.3p21.2 deletion.
A 28 month old girl with dysmorphic features was found to have an interstitial deletion of the short arm of chromosome 7p15.3-7p21.2. The patient had ptosis, dacryostenosis, pectus excavatum, short hands, and her development was normal or mildly delayed. Craniosynostosis and growth retardation, which were present in two other patients with similar deletions, were not present. Because of the mild manifestations, this case expands the clinical spectrum of the 7p15-7p21 deletion phenotype.
Wang
C
C
University of Michigan Hospitals, Department of Pediatrics and Communicable Diseases, Ann Arbor 48109.
Maynard
S
S
Glover
T W
TW
Biesecker
L G
LG
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005660:Funnel Chest / Q000235:genetics; D006337:Heart Murmurs / Q000151:congenital / Q000235:genetics*; D006801:Humans; D010641:Phenotype