A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, Hashimoto thyroiditis and hirsutism

Am J Med Genet A. 2013 Sep;161A(9):2389-92. doi: 10.1002/ajmg.a.36039. Epub 2013 Jul 29.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 8
  • Cleft Lip / diagnosis
  • Cleft Lip / genetics*
  • Comparative Genomic Hybridization
  • Female
  • Hashimoto Disease / diagnosis
  • Hashimoto Disease / genetics*
  • Hirsutism / diagnosis
  • Hirsutism / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Translocation, Genetic*
  • Trisomy
  • Young Adult