Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype
Introduction About 66% of chromosomal microdeletions and microduplications associated with pathological conditions are inherited [Smajlagić D. et al., 2021]. The mechanisms of incomplete penetrance and variable expressivity of CNV are not fully understood. The presence of concomitant CNVs in the ge...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Cambridge University Press
2022-06-01
|
Series: | European Psychiatry |
Subjects: | |
Online Access: | https://www.cambridge.org/core/product/identifier/S0924933822009683/type/journal_article |