Chromosomal Aberrations in Pediatric Patients with Developmental DelayIntellectual Disability: A Single-Center Clinical Investigation
المؤلفون المشاركون
Zhang, Zhu
Hu, Ting
Wang, Jiamin
Li, Qinqin
Wang, He
Liu, Shanling
Zhu, Hongmei
Lai, Yi
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-16، 16ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-11-06
دولة النشر
مصر
عدد الصفحات
16
التخصصات الرئيسية
الملخص EN
Introduction.
Chromosomal microarray analysis (CMA) has currently been considered as the first-tier genetic test for patients with developmental delay/intellectual disability (DD/ID) in many countries.
In this study, we performed an extensive assessment of the value of CMA for the diagnosis of children with ID/DD in China.
Methods.
A total of 633 patients diagnosed with DD/ID in West China Second University Hospital, Sichuan University, were recruited from January 2014 to March 2019.
The patients were classified into 4 subgroups: isolated DD/ID, DD/ID with multiple congenital anomalies (MCA), isolated autism spectrum disorders (ASDs), and DD/ID with epilepsy.
CMA was performed on Affymetrix 750K platform.
Results.
Among the 633 patients, 127 cases were identified as having pathogenic copy number variations (pCNVs) with an overall positive rate of 20.06%.
Of the 127 cases with abnormal results, 76 cases had 35 types of microdeletion/microduplication syndromes (59.84%) including 5 cases caused by uniparental disomy (UPD), and 18 cases had unbalanced rearrangements (14.17%) including 10 cases inherited from parental balanced translocations or pericentric inversions.
The diagnostic yields of pCNVs for the subgroups of isolated DD/ID, DD/ID with MCA, isolated ASD, and DD/ID with epilepsy were 18.07% (60/332), 34.90% (52/149), 3.70% (3/81), and 16.90% (12/71), respectively.
The diagnostic yield of pCNVs in DD/ID patients with MCA was significantly higher than that of the other three subgroups, and the diagnostic yield of pCNVs in isolated ASD patients was significantly lower than that of the other three subgroups (p<0.05).
Conclusion.
Microdeletion/microduplication syndromes and unbalanced rearrangements are probably the main genetic etiological factors for DD/ID.
DD/ID patients with MCA have a higher rate of chromosomal aberrations.
Parents of DD/ID children with submicroscopic unbalance rearrangements are more likely to have chromosome balanced translocations or pericentric inversions, which might have been missed by karyotyping.
CMA can significantly improve the diagnostic rate for patients with DD/ID, which is of great value for medical management and clinical guidance for genetic counseling.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Hu, Ting& Zhang, Zhu& Wang, Jiamin& Li, Qinqin& Zhu, Hongmei& Lai, Yi…[et al.]. 2019. Chromosomal Aberrations in Pediatric Patients with Developmental DelayIntellectual Disability: A Single-Center Clinical Investigation. BioMed Research International،Vol. 2019, no. 2019, pp.1-16.
https://search.emarefa.net/detail/BIM-1128496
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Hu, Ting…[et al.]. Chromosomal Aberrations in Pediatric Patients with Developmental DelayIntellectual Disability: A Single-Center Clinical Investigation. BioMed Research International No. 2019 (2019), pp.1-16.
https://search.emarefa.net/detail/BIM-1128496
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Hu, Ting& Zhang, Zhu& Wang, Jiamin& Li, Qinqin& Zhu, Hongmei& Lai, Yi…[et al.]. Chromosomal Aberrations in Pediatric Patients with Developmental DelayIntellectual Disability: A Single-Center Clinical Investigation. BioMed Research International. 2019. Vol. 2019, no. 2019, pp.1-16.
https://search.emarefa.net/detail/BIM-1128496
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1128496
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر