التفاصيل البيبلوغرافية
| العنوان: |
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype |
| المؤلفون: |
Roberta Milone, Raffaella Tancredi, Angela Cosenza, Anna Rita Ferrari, Roberta Scalise, Giovanni Cioni, Roberta Battini |
| المصدر: |
Genes; Volume 12; Issue 11; Pages: 1660 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2021 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
autism spectrum disorder, intellectual disability, recurrent CNVs, psychiatric disorders, RCAD, epilepsy |
| جغرافية الموضوع: |
agris |
| الوصف: |
Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive variability is common. Here we describe a case series of 12 patients with 17q12 chromosomal imbalances, in order to expand the phenotypic characterization of these recurrent syndromes whose diagnosis is often underestimated, especially if only mild traits are present. Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| Relation: |
Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12111660 |
| DOI: |
10.3390/genes12111660 |
| الاتاحة: |
https://doi.org/10.3390/genes12111660 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: |
edsbas.39BD0913 |
| قاعدة البيانات: |
BASE |