Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX

J Assist Reprod Genet. 2012 Jan;29(1):63-6. doi: 10.1007/s10815-011-9653-2. Epub 2011 Nov 10.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, X / genetics
  • Comparative Genomic Hybridization
  • Female
  • Haploinsufficiency / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infertility / genetics*
  • Karyotype
  • Neoplasm Proteins / genetics*
  • Nuclear Proteins / genetics
  • Primary Ovarian Insufficiency / genetics*
  • Translocation, Genetic / genetics*
  • Tumor Suppressor Proteins / genetics
  • Young Adult

Substances

  • LDOC1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • SPANXA1 protein, human
  • SPANXA2 protein, human
  • SPANXC protein, human
  • Tumor Suppressor Proteins