The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significance
The results suggest that our approach for determining intrafamilial IQ correlation effectively captured the impact of de novo 22q11.2 microdeletion and additive parental background effect on cognitive impairment, consistent with the modest but detectable effect of 15q11.2 deletions. Parental cognitive data could assist with classifying inherited CNVs of unknown significance.
Authors
- Jeroen Breckpot (ORCID: https://orcid.org/0000-0002-0734-5154)
- Elise Pelgrims (ORCID: https://orcid.org/0000-0002-1581-1020)
- Ania Fiksinski (ORCID: https://orcid.org/0000-0002-8169-7721)
- Laurens Hannes (ORCID: https://orcid.org/0000-0001-5288-8978)
- Tracy Heung (ORCID: https://orcid.org/0000-0003-1860-7292)
- Ilse Noens (ORCID: https://orcid.org/0000-0003-3353-4423)
- Ann Swillen (ORCID: https://orcid.org/0000-0003-4258-4537)
- Anne S. Bassett (ORCID: https://orcid.org/0000-0002-0681-7279)
- Hilde Peeters (ORCID: https://orcid.org/0000-0002-7295-3375)
- Yoni Peeters
Institutions
- University Health Network (CA)
- Centre for Addiction and Mental Health (CA)
- University Medical Center Utrecht (NL)
- Maastricht University (NL)
- Wilhelmina Children's Hospital (NL)
- KU Leuven (BE)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1186/s11689-025-09644-2
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00