Diagnostic Yield of Molecular Karyotyping of Idiopathic Intellectual Disability Patients Ended with One Causative Anomaly; Duplication 9q34 Syndrome


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Cavdarli B., Percin E. F. , YİRMİBEŞ KARAOĞUZ M. , ERGÜN M. A.

GAZI MEDICAL JOURNAL, cilt.30, sa.3, ss.252-257, 2019 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Konu: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.12996/gmj.2019.64
  • Dergi Adı: GAZI MEDICAL JOURNAL
  • Sayfa Sayıları: ss.252-257

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.