Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations

Am J Med Genet A. 2010 Oct;152A(10):2661-3. doi: 10.1002/ajmg.a.33638.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Anal Canal / abnormalities
  • Chromosome Mapping
  • Chromosomes, Human, X / genetics*
  • Cloaca / abnormalities
  • Congenital Abnormalities / genetics*
  • Developmental Disabilities / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Mosaicism*
  • Rectum / abnormalities
  • Rectum / pathology
  • Sex Chromosome Aberrations