一名智力发育迟缓女孩新发46,XX,t(4;13)(q31;q14)。
De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl.
作者信息
Jenkins E C, Curcuru-Giordano F M, Krishna S G, Cantarella J
出版信息
Ann Genet. 1975 Jun;18(2):117-20.
PMID:1081364
Abstract
A 12 year-old mentally retarded girl with multiple congenital malformations presented with an apparently new chromosome abnormality involving a de novo balanced reciprocal translocation between part of the long arms of chromosomes 4 and 13. This was observed in 291 metaphase spreads derived from short-term leucocyte and skin fibroblast cultures.
摘要
一名患有多种先天性畸形的12岁智力发育迟缓女孩，出现了一种明显新的染色体异常，涉及4号和13号染色体长臂部分的新生平衡相互易位。在来自短期白细胞和皮肤成纤维细胞培养的291个中期分裂相中观察到了这种情况。
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