De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

J Med Genet. 2001 Sep;38(9):617-21. doi: 10.1136/jmg.38.9.617.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosome Painting
  • Chromosomes, Human, Pair 15 / genetics*
  • DNA Probes / genetics*
  • Female
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Infant
  • Karyotyping
  • Male
  • Microsatellite Repeats / genetics
  • Nucleic Acid Hybridization / methods*
  • Receptor, IGF Type 1 / genetics
  • Sensitivity and Specificity

Substances

  • DNA Probes
  • Receptor, IGF Type 1