Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

Am J Med Genet A. 2006 Jun 15;140(12):1339-42. doi: 10.1002/ajmg.a.31254.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • DNA / analysis
  • DNA / genetics
  • Female
  • Genetic Markers
  • Heredity*
  • Humans
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide
  • Polymorphism, Single-Stranded Conformational
  • Proto-Oncogene Proteins / genetics
  • Radiography
  • Receptors, Retinoic Acid / genetics
  • Retinoic Acid Receptor gamma
  • Retinoid X Receptor alpha / genetics
  • Spine / abnormalities
  • Spine / diagnostic imaging
  • Syndrome
  • Ultrasonography
  • Urogenital Abnormalities / diagnosis
  • Urogenital Abnormalities / diagnostic imaging
  • Urogenital Abnormalities / pathology*
  • Wnt Proteins / genetics
  • Wnt4 Protein

Substances

  • Genetic Markers
  • Proto-Oncogene Proteins
  • Receptors, Retinoic Acid
  • Retinoid X Receptor alpha
  • WNT4 protein, human
  • Wnt Proteins
  • Wnt4 Protein
  • DNA