Öztürk Özden, Bagis Haydar, Bolu Semih
Department of Medical Genetics, Medical School of Adiyaman University, Adiyaman, Türkiye.
Department of Pediatrics, Division of Pediatric Endocrinology, Medical School of Adiyaman University, Adiyaman, Türkiye.
J Pediatr Genet. 2021 Nov 2;13(1):69-79. doi: 10.1055/s-0041-1736613. eCollection 2024 Mar.
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 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 and . 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.
7q21缺失的拷贝数变异是一种遗传性疾病，其特征为手足裂畸形、听力丧失、发育迟缓、肌阵挛、肌张力障碍、关节松弛和精神障碍。由 全基因缺失引起的成骨不全是一种非常罕见的病症。我们报告了一名患有缺指（趾）畸形、关节松弛、多处骨折、蓝色巩膜、早期龋齿、轻度学习障碍和抑郁症的土耳其女孩。7号染色体（q21.2q21.3）上4.8 Mb缺失的拷贝数变异包含58个基因，包括 和 。它们通过染色体微阵列分析得以鉴定。我们将我们患者的发现与先前报道的结果进行了比较。本病例报告强调了使用微阵列鉴定缺指（趾）畸形和成骨不全患者遗传病因的重要性。
