PDF(Pubmed)
Abstract：
Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene deletions of COL1A2 is a very rare condition. We report a Turkish girl with ectrodactyly, joint laxity, multiple bone fractures, blue sclera, early teeth decay, mild learning disability, and depression. A copy number variant in loss of 4.8 Mb at chromosome 7 (q21.2q21.3) included the 58 genes including DLX5, DLX6, DYNC1I1, SLC25A13, SGCE, and COL1A2 . They were identified by chromosomal microarray analysis. We compared the findings in our patients with those previously reported. This case report highlights the importance of using microarray to identify the genetic etiology in patients with ectrodactyly and osteogenesis imperfecta.
摘要：
7q21丢失的拷贝数变异是一种以分裂手/足畸形为特征的遗传性疾病，听力损失,发育迟缓,肌阵鸣,肌张力障碍,关节松弛,和精神疾病。由COL1A2全基因缺失引起的成骨不全是一种非常罕见的疾病。我们报道了一个土耳其女孩，关节松弛,多发性骨折,蓝色巩膜,早期蛀牙,轻度学习障碍,和抑郁症。7号染色体丢失4.8Mb的拷贝数变异（q21.2q21.3）包括58个基因，包括DLX5，DLX6，DYNC1I1，SLC25A13，SGCE，COL1A2通过染色体微阵列分析鉴定它们。我们将患者的发现与以前报道的结果进行了比较。此病例报告强调了使用微阵列来确定外翻畸形和成骨不全症患者的遗传病因的重要性。
