تفاصيل الوثيقة

نوع الوثيقة : مقال في مجلة دورية 
عنوان الوثيقة :
Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder
Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder
 
لغة الوثيقة : الانجليزية 
المستخلص : The few proximal 4q chromosomal aberrations identified in patients with neurodevelopmental phenotypes that have been published to date are variable in type, size and breakpoints and, therefore, encompass different chromosome bands and genes, making the establishment of genotype-phenotype correlations a challenging task. Here, microarray-based copy number analysis allowed us the detection of two novel and partially overlapping deletions in two unrelated families. In Family 1, a 4q13.1-q13.2 deletion of 3.84 Mb was identified in a mother with mild intellectual disability and in her two children, both with mild intellectual disability and attention deficit hyperactivity disorder. In Family 2, a de novo 4q13.2-q13.3 deletion of 6.81 Mb was detected in a female patient, born to unaffected parents, with a diagnosis of mild intellectual disability, behavioral disorder and facial dysmorphism. The shortest region of overlap between these two aberrations is located at chromosome 4q13.2 and includes 17 genes amongst of which we suggest UBA6 (ubiquitin-like modifier-activating enzyme 6) as a strong candidate gene for these phenotypes 
ردمد : 1552-4833 
اسم الدورية : Am J Med Genet A 
المجلد : 167 
العدد : 12 
سنة النشر : 1436 هـ
2015 م 
نوع المقالة : مقالة علمية 
تاريخ الاضافة على الموقع : Wednesday, April 27, 2016 

الباحثون

اسم الباحث (عربي)اسم الباحث (انجليزي)نوع الباحثالمرتبة العلميةالبريد الالكتروني
Ines QuintelaQuintela, Ines باحث رئيسي  
Francisco BarrosBarros, Francisco باحث مشارك  
Montse Fernandez-PrietoFernandez-Prieto, Montse باحث مشارك  
Rocio Martinez-RegueiroMartinez-Regueiro, Rocio باحث مشارك  
Manuel Castro-GagoCastro-Gago, Manuel باحث مشارك  
Angel CarracedoCarracedo, Angel باحث مشارك  
Carmen Gomez-LadoGomez-Lado, Carmen باحث مشارك  
Jesus EirisEiris, Jesus باحث مشارك  

الملفات

اسم الملفالنوعالوصف
 38707.pdf pdf 

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