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一名患有等臂双着丝粒染色体15的九个月大男婴:病例报告。

A nine-month-old boy with isodicentric chromosome 15: a case report.

作者信息

Park Doug Ho, Lim Seonggyu, Park Eun Sook, Sim Eun Geol

机构信息

Department of Rehabilitation Medicine and Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea.

出版信息

Ann Rehabil Med. 2013 Apr;37(2):291-4. doi: 10.5535/arm.2013.37.2.291. Epub 2013 Apr 30.

Abstract

Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Delayed development is a common problem referred to pediatric rehabilitation clinics. A 9-month-old boy with delayed development was referred to our clinic for assessment and treatment. On chromosomal analysis, he was diagnosed as idic(15) syndrome with 47,XY,+idic(15)(q12) on karyotyping. Herein we describe his clinical manifestations and provide a brief review of the related literature.

摘要

等臂双中心15号染色体[idic(15)]是一种罕见的染色体异常,由15号染色体长臂的反向重复所致。它与许多临床症状相关,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。发育迟缓是儿科康复诊所常见的问题。一名9个月大发育迟缓的男孩被转诊至我们诊所进行评估和治疗。染色体分析显示,其核型为47,XY,+idic(15)(q12),诊断为idic(15)综合征。在此,我们描述他的临床表现并对相关文献进行简要综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a8b/3660494/32fa9a14fd23/arm-37-291-g001.jpg

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