Microdissection of chromosome 2--between-arm intrachromosomal insertion.
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.
Friedrich
U
U
Microdissection Department, Institute of Human Genetics, University of Aarhus, Denmark. zitta@humgen.au.dk
Houman
M
M
Sandgaard
J
J
Rosgaard
A
A
Sunde
L
L
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