13号染色体长臂缺失综合征。家族研究。
13q- syndrome. Family study.
作者信息
Carmichael A, Addy D P, Shortland-Webb W R, Cameron A H, Davies I C
出版信息
Arch Dis Child. 1977 Dec;52(12):972-4. doi: 10.1136/adc.52.12.972.
Abstract
A patient is described who had a deletion involving the long arm of chromosome number 13. The mother and 4 of 7 living sibs showed a balanced translocation from the long arm of a number 13 chromosome to the long arm of a number 3 chromosome. We stress the importance of investigating the families of children with chromosomal defects.
摘要
本文描述了一名患有13号染色体长臂缺失的患者。其母亲以及7个在世同胞中的4个显示出13号染色体长臂到3号染色体长臂的平衡易位。我们强调对患有染色体缺陷儿童的家庭进行调查的重要性。
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引用本文的文献
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The 13q-deletion syndrome.13q缺失综合征
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The 13q- deletion syndrome.13q-缺失综合征
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Partial monosomy 13 as the result of a balanced translocation 3/13 pat.
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D13 ring chromosome syndrome.13号环状染色体综合征
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