De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes

J Genet. 2014 Dec;93(3):869-73. doi: 10.1007/s12041-014-0459-8.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosome Duplication / genetics*
  • Chromosomes, Human, Pair 18 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Microarray Analysis
  • Polymorphism, Single Nucleotide