Maldžienė Živilė, Preikšaitienė Eglė, Ignotienė Salomėja, Kapitanova Natalija, Utkus Algirdas, Kučinskas Vaidutis
Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Cytogenet Genome Res. 2017;151(1):5-9. doi: 10.1159/000456695. Epub 2017 Feb 23.
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements. Elucidation of the exact genetic cause of ARS is important for comprehensive genetic counseling of the family members and for better patient management.
阿克森费尔德-里格尔综合征（ARS）是一组临床和遗传异质性的常染色体显性遗传畸形，主要影响眼睛，但也与颅面畸形和牙齿异常有关。涉及PITX2和FOXC1的广泛基因改变会导致ARS。我们报告了一名4岁女孩，她具有ARS的临床特征，并因4号染色体上的新发明显平衡的臂间倒位而出现发育迟缓。本报告强调，需要进行补充检查以精确表征染色体重排。阐明ARS的确切遗传原因对于对家庭成员进行全面的遗传咨询以及更好地管理患者非常重要。
