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Mild developmental delay in terminal chromosome 6p deletion
Author(s) -
Chen Kelly M.,
Cherry Athena M.,
Hahn Jin S.,
Enns Gregory M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30127
Subject(s) - terminal (telecommunication) , chromosome , cognition , global developmental delay , genetics , long arm , speech delay , biology , neuroscience , gene , computer science , phenotype , telecommunications
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. © 2004 Wiley‐Liss, Inc.