Microdissection of chromosome 2--between-arm intrachromosomal insertion

Eur J Hum Genet. 2000 May;8(5):393-5. doi: 10.1038/sj.ejhg.5200421.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Induced
  • Abortion, Spontaneous
  • Adult
  • Chromosome Aberrations*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2*
  • Female
  • Humans
  • Mutagenesis, Insertional
  • Pedigree