| Literature DB >> 15316977 |
Kelly M Chen1, Athena M Cherry, Jin S Hahn, Gregory M Enns.
Abstract
Deletions involving the short arm of chromosome 6 are relatively rare. Although features of this condition are variable, common findings include developmental delay, ocular abnormalities, hearing loss, and cardiac defects. In an effort to define further the clinical variability of this condition, we report a 6-year-old female with a de novo terminal deletion of chromosome 6 at band 6p24, with mild gross motor delays and normal cognition. Copyright 2004 Wiley-Liss, Inc.Entities:
Mesh:
Year: 2004 PMID: 15316977 DOI: 10.1002/ajmg.a.30127
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802