Antonucci Roberto, Vacca Nadia, Ghisu Elisa, Acquaviva Gloria, Cosmi Carlo, Marinaro Anna Maria, Locci Cristian, Fozza Claudio
Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
Cancer Genet. 2019 Jun;235-236:93-94. doi: 10.1016/j.cancergen.2019.05.001. Epub 2019 May 18.
Isodicentric chromosome 15, also called idic(15), is a rare chromosomal abnormality resulting from inverted duplication of proximal 15q. It is associated with specific clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Herein we describe a case of a girl with idic(15) syndrome who developed acute lymphoblastic leukemia (ALL) at the age of 9 years. Our case suggests a possible correlation between idic(15) and ALL, and possible functional links between these two conditions.
等臂双中心染色体15,也称为idic(15),是一种罕见的染色体异常,由近端15q的反向重复引起。它与特定的临床症状相关,如早期中枢性肌张力减退、发育迟缓、认知功能障碍、自闭症谱系障碍和癫痫。在此,我们描述了一名患有idic(15)综合征的女孩,她在9岁时患上了急性淋巴细胞白血病(ALL)。我们的病例提示idic(15)与ALL之间可能存在关联,以及这两种情况之间可能的功能联系。