De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects

Clin Dysmorphol. 2013 Jul;22(3):132-134. doi: 10.1097/MCD.0b013e328363023b.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 9 / genetics*
  • Comparative Genomic Hybridization
  • Disorder of Sex Development, 46,XY / genetics*
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Steroidogenic Factor 1 / genetics

Substances

  • NR5A1 protein, human
  • Steroidogenic Factor 1