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本文报告1例临床长期误诊为先天愚型(21三体型)的患孩。经染色体检查证实患孩的一家二代的罕见的染色体核型异常(10号染色体部分三体性)。于1989年8月经我国“细胞遗传学国家培训中心”审核确定,属世界首例报道。
This article reports 1 case of long-term clinical misdiagnosed as Down’s syndrome (21 trisomy type) of the child. Chromosome examination confirmed the second generation of children with rare chromosomal abnormalities (chromosome 10 partial trisomy). In August 1989 by China’s “National Center for Cytogenetics” audit confirmed, is the world’s first report.