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

IF 1.5 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Croatian Medical Journal Pub Date : 2025-05-07

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

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引用次数: 0

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.

本刊更多论文

分子核型的诊断率：一项回顾性单中心研究。

目的：探讨染色体微阵列分析（CMA）对智力障碍和发育迟缓（ID/DD）、多发性先天性异常（MCA）、癫痫、自闭症谱系障碍（ASD）、生殖异常和畸形等不同患者群体的诊断效果。方法：回顾性分析2016年至2022年在埃尔巴坎大学医学院附属医院医学遗传学门诊就诊的176例患者的微阵列数据。在拷贝数变异（CNV）解释后，我们评估各组CMA的诊断强度。结果：在ID/DD患者中有20.3%（22/108）、MCA患者中有23.9%（17/71）、癫痫患者中有15.9%（7/44）、ASD患者中有16.6%（4/24）、生殖异常患者中有11.7%（2/17）存在表型相关的CNVs。43%（35/80）的畸形患者发现染色体增加或减少。结论：本研究证实了CMA对ID/DD、MCA和ASD患者的诊断率显著，并扩大了其对癫痫和畸形的诊断价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Croatian Medical Journal 医学-医学：内科

CiteScore

3.00

自引率

5.30%

发文量

105

审稿时长

6-12 weeks

期刊介绍： Croatian Medical Journal (CMJ) is an international peer reviewed journal open to scientists from all fields of biomedicine and health related research. Although CMJ welcomes all contributions that increase and expand on medical knowledge, the two areas are of the special interest: topics globally relevant for biomedicine and health and medicine in developing and emerging countries.