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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Yield of karyotyping in children with developmental delay and/or dysmorphic features in Sohag University Hospital, Upper Egypt
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Yield of karyotyping in children with developmental delay and/or dysmorphic features in Sohag University Hospital, Upper Egypt

机译：上埃及苏哈格大学医院发育迟缓和/或畸形特征儿童的核型分析

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Background Global developmental delay (GDD) represents a measurable lag in a young child's achievement of developmental milestones compared to age matched children. Affection of two or more developmental domains is fundamental for assumption of GDD. Many chromosomal abnormalities are responsible for developmental delay or mental retardation and can be detected using G-banded karyotyping. Aim of the work This work aimed to determine the yield of karyotyping in children with GDD and/or dysmorphic features in Sohag University Hospital, Upper Egypt. Subjects and methods All children presenting with GDD and/or dysmorphic features, with abnormal karyotyping or other genetic testing were included. Full history, thorough clinical and detailed neurological examinations were done. The results of other investigations done for the patients, including neuroimaging and electroencephalography (EEG), were utilized (if available). Results The total number of patients included was 395 patients, out of 646 patients who did karyotype; the mean age of presentation was 24.7?±?32.1 (SD) months, there were 243 (61.5%) males and 152 (38.5%) females. The positive yield of karyotyping in children with developmental delay and/or dysmorphic features, including classic Down features, was 61.1%; however, with exclusion of Down syndrome and other suspected trisomies, it became 7.4%. The most prevalent chromosomal abnormality was trisomy 21-Down syndrome (364 patients/92.2%), followed by structural chromosomal abnormalities and marker chromosome in 19 patients (4.8%) and, lastly, sex chromosome abnormalities (8 patients/2.0 %). The main complaint was GDD in half of the patients (205/51.9%), while the majority of patients had microcephaly. Conclusion G-banded karyotyping is a useful tool with reasonable yield in evaluation of children with developmental delay and/or dysmorphic features, especially in countries with limited resources.
机译：背景与年龄相匹配的儿童相比，全球发育延迟（GDD）代表了幼儿在实现发展里程碑方面的可衡量的滞后。对两个或多个发展领域的影响是假设GDD的基础。许多染色体异常是造成发育迟缓或智力低下的原因，可以使用G带核型分析来检测。工作目的这项工作旨在确定上埃及Sohag大学医院患有GDD和/或畸形特征的儿童的核型分析结果。对象和方法包括所有表现出GDD和/或畸形特征，异常核型和其他基因检测的儿童。进行了完整的历史，彻底的临床和详细的神经系统检查。利用了对患者进行的其他检查的结果，包括神经成像和脑电图（EEG）（如果有）。结果核型646例中395例;平均呈报年龄为24.7±32.1（SD）个月，其中男性为243（61.5％），女性为152（38.5％）。具有发育迟缓和/或畸形特征（包括典型的唐氏特征）的儿童的核型分析阳性率为61.1％;但是，如果排除唐氏综合症和其他可疑三体症，则占7.4％。最普遍的染色体异常是21-三体综合征（364例/92.2%），其次是结构性染色体异常和标记染色体（19％）（4.8％），最后是性染色体异常（8例/2.0%）。主要的抱怨是一半患者（205 / 51.9％）的GDD，而大多数患者患有小头畸形。结论G带核型分析是评估发育迟缓和/或畸形特征儿童的有用工具，具有合理的产率，特别是在资源有限的国家。

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