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. 2025 May 7;66(2):92-99.
doi: 10.3325/cmj.2025.66.92.

The diagnostic yield of molecular karyotyping: a retrospective single-center study

Emine Göktaş, Ahmet Burak Arslan, Betül Turan, Betül Okur Altındaş, Ayşe Gül Zamani  1 , Mahmut Selman Yıldırım
Affiliations

The diagnostic yield of molecular karyotyping: a retrospective single-center study

Emine Göktaş et al. Croat Med J. .

Abstract

Aim: To determine the diagnostic yield of chromosomal microarray analysis (CMA) in different patient groups: intellectual 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 Outpatient Clinic of Necmettin Erbakan University Medical Faculty 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 epilepsy, 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 diagnostic yield of CMA in ID/DD, MCA, and ASD patients, and expanded its value for cases with epilepsy and dysmorphism.

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Figures

Figure 1
Figure 1
The overlaps between the major patient groups. IDD – Iintellectual disability and developmental delay; MCA – multiple congenital anomalies.
Figure 2
Figure 2
(A) Copy number gains or losses (B) Sex distibution across patient groups. IDD – intellectual disability and developmental delay; MCA – multiple congenital anomalies. ASD – autism spectrum disorder.
Figure 3
Figure 3
The number of patients with available conventional cytogenetics analysis results according to pathogenicity classification. CNV – copy number variation; VUS – variant of uncertain significance; LP – likely pathogenic; P – pathogenic.
See this image and copyright information in PMC

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