[通过分子细胞遗传学诊断微小染色体修饰]
[Diagnosis of minor chromosome modifications by molecular cytogenetics].
作者信息
Taviaux S, Moncla A, Giraud F, Demaille J, Mattei J F, Mattei M G
机构信息
U.249 INSERM Centre Hospitalier, Montpellier, France.
出版信息
Ann Genet. 1989;32(4):204-10.
Chromosomal in situ hybridization with radioactive probes allows the detection of single copy DNA segments of very small size. In two phenotypically normal individuals, classical chromosomal analysis revealed a small partial deletion of chromosome 18 short arm. In situ hybridization of probe D18S3, located at 18p13, showed in both instances a balanced reciprocal translocation: 46,XY,t(5;18) (p153;p112) and 46,XX,t(18;22)(p111;p11), respectively.
使用放射性探针进行染色体原位杂交能够检测出非常小的单拷贝DNA片段。在两名表型正常的个体中，经典染色体分析显示18号染色体短臂存在小的部分缺失。位于18p13的探针D18S3的原位杂交在这两个病例中均显示出平衡的相互易位：分别为46,XY,t(5;18) (p153;p112) 和46,XX,t(18;22)(p111;p11)。
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