MILD PHENOTYPIC MANIFESTATION OF A 7P15.3P21.2 DELETION

Citation
C. Wang et al., MILD PHENOTYPIC MANIFESTATION OF A 7P15.3P21.2 DELETION, Journal of Medical Genetics, 30(7), 1993, pp. 610-612
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
30
Issue
7
Year of publication
1993
Pages
610 - 612
Database
ISI
SICI code
0022-2593(1993)30:7<610:MPMOA7>2.0.ZU;2-J
Abstract
A 28 month old girl with dysmorphic features was found to have an inte rstitial deletion of the short arm of chromosome 7p15.3-7p21.2. The pa tient had ptosis, dacryostenosis, pectus excavatum, short hands, and h er development was normal or mildly delayed. Craniosynostosis and grow th 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 .