Mild developmental delay in terminal chromosome 6p deletion AMERICAN JOURNAL OF MEDICAL GENETICS PART A Chen, K. M., Cherry, A. M., Hahn, J. S., Enns, G. M. 2004; 129A (2): 201-205

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.

View details for DOI 10.1002/ajmg.a.30127

View details for PubMedID 15316977