Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17)(q44;p13.2)

Prenat Diagn. 2004 Dec 15;24(12):1022-4. doi: 10.1002/pd.971.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Facial Bones / abnormalities
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Pedigree
  • Translocation, Genetic / genetics*