Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

J Med Genet. 2004 Sep;41(9):691-8. doi: 10.1136/jmg.2003.016865.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Breakage / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4 / genetics*
  • Female
  • Genetic Markers / genetics
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Male
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis*
  • Phenotype
  • Physical Chromosome Mapping*
  • Polymorphism, Genetic / genetics
  • Syndrome

Substances

  • Genetic Markers