一名智力发育迟缓男孩的12号染色体部分三体以及其母亲的（12；21）易位。
Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother.
作者信息
Hobolth N, Jacobsen P, Mikkelsen M
出版信息
J Med Genet. 1974 Sep;11(3):299-303. doi: 10.1136/jmg.11.3.299.
Abstract
Cytogenetic studies of an infant with malformations and a peculiar appearance showed a partial trisomy of chromosome 12. The mother carried a translocation of the distal part of chromosome 12 onto the short arm of chromosome 21, with breakpoints most likely at 12q24 and 21p11.
摘要
对一名有畸形和特殊外貌的婴儿进行的细胞遗传学研究显示存在12号染色体部分三体。母亲携带12号染色体远端部分易位至21号染色体短臂，断点最可能位于12q24和21p11。
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