title: Microdissection of chromosome 2--between-arm intrachromosomal insertion.
abstract: 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.
authors.affiliation: Microdissection Department, Institute of Human Genetics, University of Aarhus, Denmark. zitta@humgen.au.dk
authors.forename: U
authors.initials: U
authors.lastname: Friedrich
authors.forename: M
authors.initials: M
authors.lastname: Houman
authors.forename: J
authors.initials: J
authors.lastname: Sandgaard
authors.forename: A
authors.initials: A
authors.lastname: Rosgaard
authors.forename: L
authors.initials: L
authors.lastname: Sunde
mesh_terms: D000028:Abortion, Induced; D000022:Abortion, Spontaneous; D000328:Adult; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D016254:Mutagenesis, Insertional; D010375:Pedigree