Zerova-Liubimova T E, Rigel M, Smul'skaia N A, Evseenkova E G, Gorovenko N G, Shintzel A
Tsitol Genet. 2004 Jul-Aug;38(4):55-61.
We present de novo diagnosed case of partial trisomy of short arm of chromosome 8 with psyhomotoric delay and microanomalies. Inverted duplication of short arm of chromosome 8 was identified using molecular-cytogenetic method. This case is compared with literature data on the same cases. The further intensive study of such cases is necessary to delineate this chromosomal syndrome
我们报告了一例新诊断的8号染色体短臂部分三体综合征病例,伴有精神运动发育迟缓及微小异常。采用分子细胞遗传学方法鉴定出8号染色体短臂倒位重复。将该病例与相同病例的文献数据进行了比较。有必要对这类病例进行进一步深入研究以明确这种染色体综合征。