Jankovic Joseph, Deng Hao
Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.
Pediatr Neurol. 2007 Jul;37(1):70-3. doi: 10.1016/j.pediatrneurol.2007.02.015.
Cases of chromosomal aberrations are known to be associated with specific phenotypic abnormalities, including tics and chorea. We report the case of a 10-year-old caucasian boy with tics, chorea, and a de novo chromosome 15 paracentric inversion, 46,XY,inv(15) (q13;q22.3) identified with G-banding chromosome analysis (trypsin-Giemsa staining). Subsequent fluorescence in situ hybridization with locus-specific small nuclear ribonucleoprotein polypeptide N gene probe confirmed that the breakpoints of the inversion were distal to 15q12. Mutation analysis showed no mutation or polymorphism in the thyroid transcription factor 1 gene (TITF1). The results suggest that 15q is a region to explore for candidate genes of etiologic importance in the development of tics and chorea.
已知染色体畸变病例与特定的表型异常有关，包括抽动和舞蹈症。我们报告了一名10岁白人男孩的病例，他患有抽动、舞蹈症，并通过G显带染色体分析（胰蛋白酶-吉姆萨染色）鉴定出一条15号染色体臂间倒位，核型为46,XY,inv(15)(q13;q22.3)。随后用位点特异性小核核糖核蛋白多肽N基因探针进行荧光原位杂交，证实倒位的断点位于15q12远端。突变分析显示甲状腺转录因子1基因（TITF1）无突变或多态性。结果表明，15q是一个值得探索的区域，以寻找在抽动和舞蹈症发生中具有病因学重要性的候选基因。
