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13号环状染色体综合征临床中通常表现为发育迟缓或智力低下等先天异常。本文报道了1位由于嵌合型13号环状染色体造成的智力低下的5岁女童。患儿外周血染色体核型分析为mos 46,XX[35]//45,XX,-13[10]/45,XX,t(13;13)(p13q34)[12]/46,XY,r(13)(p13q34)[22]/46,XX,del(13)(q31-qter)[13]。我们比较本病例与国外报道的r(13)(p13q34)型环状13号染色体综合征临床特征,提示13号环状染色体综合征患者临床特征有很大的变化。
Cyclic chromosome syndrome on the 13th of the clinical manifestations of growth retardation or mental retardation and other congenital anomalies. This article reports a 5-year-old girl with mental retardation due to the chimeric type 13 circular chromosome. Chromosomal karyotype analysis of children with peripheral blood was carried out as follows: mos 46, XX [35] // 45, XX, -13 [10] / 45, XX, t (13) (p13q34) [22] / 46, XX, del (13) (q31-qter) [13]. We compared the clinical features of the r (13) (p13q34) type 13 circular chromosome syndrome reported in this and other countries, suggesting a significant change in the clinical features of patients with ring-13 syndrome.