A new RFLP withStuI and probe cX55.7 (DXS105) and its usefulness in carrier analysis of fragile X syndrome |
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| Authors: | Anne-Mari Rekilä Marja-Leena Väisänen Marketta Kähkönen Jaakko Leisti Robert Winqvist |
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| Institution: | (1) Institut für Klinische Genetik und Zytologie am Evangelischen Krankenhaus, Virchowstrasse 20, D-4200 Oberhausen 1, Germany |
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| Abstract: | Summary The case of a healthy 29-year-old woman is reported who had a history of three early spontaneous abortions. Chromosomal analysis of the mother of the patient showed a balanced karotype of 46,XX,t(6;11)(q24; q21), whereas the chromosomes of her father were normal. The karotype of this patient is thus a combination of a familial translocation 6;11 and a de novo translocation 4;11, which is very rare. |
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