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Microdissection of chromosome 2--between-arm intrachromosomal insertion
U Friedrich1, M Houman, J Sandgaard
1Microdissection Department, Institute of Human Genetics, University of Aarhus, Denmark. zitta@humgen.au.dk
This report describes a mother with a balanced intrachromosomal insertion of band q22 on chromosome number 2 into band p24 on the same chromosome. She had had four spontaneous abortions and two induced abortions. One foetus had a suspected obstruction of the uretero-pelvic part of the urinary tract and monosomy of band 2q22, the other foetus had anencephaly and trisomy of band 2q22. By microdissection we have generated a painting probe from the mother's abnormal short arm of chromosome 2 (der2p probe). This family specific probe will be used in future pregnancies for precise diagnosis.
This report describes a mother with a balanced intrachromosomal insertion of band q22 on chromosome number 2 into band p24 on the same chromosome. She had had four spontaneous abortions and two induced abortions. One foetus had a suspected obstruction of the uretero-pelvic part of the urinary tract and monosomy of band 2q22, the other foetus had anencephaly and trisomy of band 2q22. By microdissection we have generated a painting probe from the mother's abnormal short arm of chromosome 2 (der2p probe). This family specific probe will be used in future pregnancies for precise diagnosis.