一名患有10q部分三体性和2q部分单体性的男孩出现严重智力发育迟缓。
Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.
作者信息
Sills J A, Buckton K E, Raeburn J A
出版信息
J Med Genet. 1976 Dec;13(6):507-10. doi: 10.1136/jmg.13.6.507.
Abstract
A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.
摘要
一名患有多种身体畸形的重度智力发育迟缓儿童，其核型显示为46,XY,-2,+der(2),t(2;10)(q31;q24)pat。对该患者核型的全面评估依赖于家系研究。结果表明，在三代人中，有4名正常男性存在平衡易位t(2,10)。
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