Chen Kelly M, Cherry Athena M, Hahn Jin S, Enns Gregory M
Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Stanford, California 94305-5208, USA.
Am J Med Genet A. 2004 Aug 30;129A(2):201-5. doi: 10.1002/ajmg.a.30127.
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.
涉及6号染色体短臂的缺失相对罕见。尽管这种疾病的特征各不相同，但常见表现包括发育迟缓、眼部异常、听力丧失和心脏缺陷。为了进一步明确这种疾病的临床变异性，我们报告了一名6岁女性，其6号染色体6p24带发生了新发的末端缺失，伴有轻度大运动发育迟缓但认知正常。
