Diagnostic Yield of Molecular Karyotyping of Idiopathic Intellectual Disability Patients Ended with One Causative Anomaly; Duplication 9q34 Syndrome
GAZI MEDICAL JOURNAL, cilt.30, sa.3, ss.252-257, 2019 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 30 Sayı: 3
- Basım Tarihi: 2019
- Doi Numarası: 10.12996/gmj.2019.64
- Dergi Adı: GAZI MEDICAL JOURNAL
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
- Sayfa Sayıları: ss.252-257
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Gazi Üniversitesi Adresli: Evet
Özet
Objective: Clinical application of sequence comparative genomic hybridization has greatly contributed to the diagnosis of patients with multiple congenital anomalies, syndromic or non-syndromic intellectual disability. The idiopathic intellectual disability patients with normal karyotype and/or normal subtelomeric rearrangement analysis via Fluorescence in situ Hybridization (FISH), using genome-wide microarray platforms have detected chromosome abnormalities in up to 12% of cases. In this study, we aimed that evaluate the etiology of 9 patients with idiopathic intellectual disability and congenital malformations or dysmorphic features.