Abstract
Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.
Original language | English |
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Pages (from-to) | 146-149 |
Number of pages | 4 |
Journal | Gene |
Volume | 565 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jul 1 2015 |
Keywords
- CNV
- CTNND2
- Deletion
- Disability
- Intellectual
ASJC Scopus subject areas
- Genetics