sSMC

small supernumerary marker chromosome(English)

  • defined as additional centric chromosome fragment too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of several syndromes such as the i(18p)-, der(22)-, i(12p)- PKS and inv dup(22)- (cat-eye) syndromes
  • PKS
  • Genetics, Congenital disorders
  • https://doi.org….1159/000079572