Diagnosis of the Genomic Imprinting Diseases by the Usage of Conventional and Molecular Analyses

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Kaymak A. O., YİRMİBEŞ KARAOĞUZ M., GÜCÜYENER K., PERÇİN F. E.

GAZI MEDICAL JOURNAL, vol.28, no.3, pp.200-203, 2017 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 3
  • Publication Date: 2017
  • Doi Number: 10.12996/gmj.2017.58
  • Journal Name: GAZI MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.200-203
  • Open Archive Collection: AVESIS Open Access Collection
  • Gazi University Affiliated: Yes

Abstract

Objective: Prader-Willi (PWS) and Angelman syndromes (AS) are genomic imprinting diseases with intellectual disability. In approximately 70 % of the cases, there is a cytogenetic deletion involving the chromosome 15q11-q13 inherited from patient's father (in PWS) and from patient's mother (in AS). In approximately 20-25% and 3-7% of the cases, there is an uniparental disomy (UPD) of chromosome 15 in PWS and AS patients, respectively. The mutation ratio in AS patients is approximately 10 %, while the ratio is two percent in PWS patients.