• Retour au cours Cerruti P, Perfumo C, Cali A et al : Clinical and molecular characterization of 80 patients with 5p deletion:genotype-phenotype correlation. J Med Genet 2001,38:151-158. Conlin L, Kramer W, Hutchinson A, et al: Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet;2011;48:1-9
  • Retour au cours Conlin L, Kramer W, Hutchinson A : Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients: J Med Genet 2011;48:1-9
  • Retour au cours Griffith CB, Vance GH, Weaver DD. : Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. Am J Med Genet A. 2009 Jun; 149A(6):1346-58
  • Retour au cours Jean de Grouchy, Catherine Turleau. : « Atlas des maladies chromosomiques » Expansion Scientifique Française ; 2e édition-1982.
  • Retour au cours Liehr T, Mrasek K, Weise A et al : Small supernumary marker chromosome-progress towards a genotype-phenotype correlation. Cytogenet Genome Res. 2006;112(1-2):23-34
  • Retour au cours Rauch A, Schellmoser S, Kraus C, et al: : First know microdeletion witih the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet 2001,99:338-342.
  • Retour au cours Zollino M, Lecce R, Fischetto R et al : Mapping the Wolf-Hirschhorn syndrome outside the currently accepted WHS critical region and defining a new critical region WHSCR-2. Am J Hum Genet 2003,75:590-597.