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患有轻微表型发育异常儿童的15号环状染色体。

Ring chromosome 15 in child with a minor dysmorphism of phenotype.

作者信息

Rumenić L, Anaf M

出版信息

Hum Genet. 1976 Jul 27;33(2):187-8. doi: 10.1007/BF00281895.

Abstract

The analysis of a karyotype of a girl with slight mental retardation, without significant dysmorphism, showed the presence of a ring chromosome in group 13-15. By the application of G technique it was discovered that in this case it was an aberrant chromosome 15. Besides retardation in growth and a slight mental backwardness in this case, it was confirmed that in cases of ring 15 syndrome no preponderant change appears in phenotype.

摘要

对一名轻度智力发育迟缓、无明显畸形的女孩进行核型分析,结果显示在13 - 15组存在一条环状染色体。通过应用G显带技术发现,在这种情况下它是一条异常的15号染色体。除了生长发育迟缓以及在这种情况下存在轻度智力落后外,还证实了在15号环状染色体综合征病例中,表型上没有明显的优势变化。

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