MOLECULAR DEFINITION OF DENOVO AND GENETICALLY TRANSMITTED WAGR-ASSOCIATED REARRANGEMENTS OF 11P13
MOLECULAR DEFINITION OF DENOVO AND GENETICALLY TRANSMITTED WAGR-ASSOCIATED REARRANGEMENTS OF 11P13
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DOI：
10.1159/000132726
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发表时间：
1989-01-01
期刊：
影响因子：
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通讯作者：
JUNIEN, C
中科院分区：
文献类型：
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作者：
LAVEDAN, C;BARICHARD, F;JUNIEN, C
我们描述了一个表型正常的父亲携带平衡插入易位INS(14；11)(q23；p12p14)的家庭。这个人有三个智力低下的孩子，其中两个有Del(11)(P13)，一个有DUP(11)(P13)。还描述了另两个新的(11)(P13)案例。所有4例del(11)(P13)病例均表现为WAGR，这是一种与Wilms瘤(WT)、无虹膜(A)、泌尿生殖系统异常(G)和智力低下(R)的易感性相关的复杂综合征。采用核型分析、基因拷贝数测定和5个11p13 DNA标记的RFLP研究相结合的方法，我们能够确定每个病例涉及的染色体重排。对这些WAGR缺失的分析提供了11号染色体上p13带的进一步细分。
We describe a family in whom the phenotypically normal father carries a balanced insertional translocation, ins(14;11)(q23;p12p14). This individual fathered three mentally retarded children, two with a del(11)(p13) and one with a dup(11)(p13). Two other cases of a de novo del(11)(p13) are also described. All four del(11)(p13) cases presented with WAGR, a complex syndrome associated with a predisposition to Wilms'' tumor (WT), aniridia (A), genitourinary abnormalities (G), and mental retardation (R). Using an approach combining karyotype analysis, determination of the gene copy number, and RFLP studies employing five 11p13 DNA markers, we were able to define the chromosomal rearrangement involved in each case. Analysis of these WAGR deletions provides further subdivision of band p13 on chromosome 11.