与表型异常相关的12号染色体长臂1区3带脆性位点。
Fragile site at 12q13 associated with phenotypic abnormalities.
作者信息
Morić-Petrović S, Laca Z
出版信息
J Med Genet. 1984 Jun;21(3):216-7. doi: 10.1136/jmg.21.3.216.
Abstract
A dysmorphic 3 year old boy with severe psychomotor retardation is described. His karyotype was 45,XY,t(13q;14q)rob, fra (12q13). The relationship between fra(12q13) and the clinical picture is discussed.
摘要
本文描述了一名患有严重精神运动发育迟缓的3岁畸形男孩。其核型为45，XY，t(13q;14q)rob，fra(12q13)。文中讨论了fra(12q13)与临床表现之间的关系。
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