Diagnosis of the Genomic Imprinting Diseases by the Usage of Conventional and Molecular Analyses
GAZI MEDICAL JOURNAL, cilt.28, sa.3, ss.200-203, 2017 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 28 Sayı: 3
- Basım Tarihi: 2017
- Doi Numarası: 10.12996/gmj.2017.58
- Dergi Adı: GAZI MEDICAL JOURNAL
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.200-203
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Gazi Üniversitesi Adresli: Evet
Özet
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.