Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder
المؤلفون المشاركون
Royo, José Luis
Heine-Sunyer, Damiàn
Aluja, Anton
Laplana, Marina
Fibla, Joan
López, Ricard
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-01-19
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
Autism spectrum disorder (ASD) is a highly heritable disease (~0.9) with a complex genetic etiology.
It is initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well as fundamental deficits in social interaction.
Despite the large amount of studies described so far, the high clinical diversity affecting the autism phenotype remains poorly explained.
Recent studies suggest that rare genomic variations, in particular copy number variation (CNV), may account for a significant proportion of the genetic basis of ASD.
The use of disease-discordant monozygotic twins represents a powerful strategy to identify de novo and inherited CNV in the disorder.
Here we present the results of a comparative genome hybridization (CGH) analysis with a pair of monozygotic twins affected of ASD with significant differences in their clinical manifestations that specially affect speech language impairment and communication skills.
Array CGH was performed in three different tissues: blood, saliva, and hair follicle, in an attempt to identify germinal and somatic CNV regions that may explain these differences.
Our results argue against a role of large CNV rearrangements as a molecular etiology of the observed differences.
This forwards future research to explore de novo point mutation and epigenomic alterations as potential explanations of the observed clinical differences.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Laplana, Marina& Royo, José Luis& Aluja, Anton& López, Ricard& Heine-Sunyer, Damiàn& Fibla, Joan. 2014. Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-9.
https://search.emarefa.net/detail/BIM-477900
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Laplana, Marina…[et al.]. Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder. Case Reports in Genetics No. 2014 (2014), pp.1-9.
https://search.emarefa.net/detail/BIM-477900
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Laplana, Marina& Royo, José Luis& Aluja, Anton& López, Ricard& Heine-Sunyer, Damiàn& Fibla, Joan. Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-9.
https://search.emarefa.net/detail/BIM-477900
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-477900
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