Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14

J Obstet Gynaecol. 2017 Apr;37(3):375-376. doi: 10.1080/01443615.2016.1217513. Epub 2016 Dec 28.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Diseases, Developmental / diagnostic imaging*
  • Bone Diseases, Developmental / embryology
  • Bone Diseases, Developmental / genetics
  • Brain / abnormalities*
  • Brain / diagnostic imaging
  • Brain / embryology
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 14 / genetics*
  • Congenital Abnormalities / genetics*
  • Consanguinity
  • Female
  • Humans
  • Male
  • Pakistan / ethnology
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Tissue Array Analysis
  • Ultrasonography, Prenatal