Original scientific paper
https://doi.org/10.3325/cmj.2025.66.92
The diagnostic yield of molecular karyotyping: a retrospective single-center study
Emine Göktaş
; Department of Medical Genetics, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey
Ahmet Burak Arslan
; Department of Medical Genetics, Kocaeli City Hospital, Kocaeli, Turkey
Betül Turan
; Department of Medical Genetics, Samsun Training and Research Hospital, Samsun, Turkey
Betül Okur Altındaş
; Department of Medical Genetics, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey
Ayşe Gül Zamani
; Department of Medical Genetics, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey
*
Mahmut Selman Yıldırım
; Department of Medical Genetics, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey
* Corresponding author.
Abstract
Aim To determine the diagnostic yield of chromosomal
microarray analysis (CMA) in different patient groups: in
tellectual disability and developmental delay (ID/DD),
multiple congenital anomalies (MCA), epilepsy, autism
spectrum disorder (ASD), reproductive abnormalities, and
dysmorphic features.
Methods We retrospectively reviewed microarray data
of 176 patients admitted to the Medical Genetics Outpa
tient Clinic of Necmettin Erbakan University Medical Fac
ulty Hospital from 2016 to 2022. After the copy number
variation (CNV) interpretation, we evaluated the diagnostic
strength of CMA in each group.
Results Phenotype-associated CNVs were detected in
20.3% (22/108) of patients with ID/DD, 23.9% (17/71) of
patients with MCA, 15.9% of patients (7/44) with epilep
sy, 16.6% (4/24) of patients with ASD, and 11.7% (2/17)
of those with reproductive abnormalities. Chromosomal
gains or losses were found in 43% (35/80) of patients with
dysmorphic findings.
Conclusion This study confirmed the remarkable diag
nostic yield of CMA in ID/DD, MCA, and ASD patients, and
expanded its value for cases with epilepsy and dysmor
phism.
Keywords
Hrčak ID:
352476
URI
Publication date:
23.4.2025.
Visits: 0 *