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Different Genotypes in Prader-Willi Syndrome

  • Yasemin Kendir Demirkol
  • Gülşen Akay Tayfun
  • Huriye Nursel Elçioğlu

J Clin Res Pediatr Endocrinol 2015;7(2):85-85

Prader-Willi syndrome (PWS), first described in 1956, is a common and complex disorder affecting multiple systems. PWS is due to absence of paternally expressed imprinted genes at 15q11.2-q13. DNA methylation analysis can detect >99% of individuals with PWS, but it is unable to distinguish between the molecular classes of the disease. This study’s aim was to create a diagnostic algorithm for PWS by examining the genotype of patients seen in clinical practice. In this study, clinically suspected 7 PWS patients aged between 7 months and 17 years (4 female and 3 male) are discussed. Karyotype analysis revealed deletion in 2 cases (confirmed by FISH analysis). Deletion at 15q11.2-q13 was observed in 1 case, while in two cases, karyotyping and FISH analysis were normal and PWS was diagnosed by methylation analysis. In two cases, karyotyping and FISH analysis were normal; methylation analysis result is expected.

Keywords: Prader-Willi, algorithm, DNA methylation, karyotyping, paternally