Diagnosis of minor chromosome modifications by molecular cytogenetics |
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| Authors: | S Taviaux A Moncla F Giraud J Demaille J F Mattei M G Mattei |
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| Affiliation: | U.249 INSERM Centre Hospitalier, Montpellier, France. |
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| Abstract: | 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. |
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