Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights
This study reinforces the clinical utility of CMA in detecting cryptic chromosomal abnormalities in syndromic CHD. The identified CNVs and gene candidates offer new insights into CHD genetic architecture and support CMA as a first-tier diagnostic tool. These findings highlight the contribution of rare, pathogenic CNVs in syndromic cases and suggest their integration into refined diagnostic and counseling strategies. Further functional studies are necessary to elucidate the roles of these candidates in cardiogenesis.
Authors
- Hayet Ben Hamida (ORCID: https://orcid.org/0000-0002-1614-9155)
- Zakia Habboul
- H. Soua
- Aida Guith
- Leïla Dardour
- Rim Khelifi
- Habib Kharrat
- Jihene Mathlouthi
- Amel Tej
- Hela Ben Khelifa
- Rim Kooli
- Houda Ajmi (ORCID: https://orcid.org/0000-0003-4955-6627)
- Molka Kammoun (ORCID: https://orcid.org/0000-0001-7488-0694)
- Khouloud Rjiba (ORCID: https://orcid.org/0000-0001-5944-2231)
- Elies Naffeti
- Ayda Bennour (ORCID: https://orcid.org/0000-0003-2256-1493)
- Wafa Slimani (ORCID: https://orcid.org/0000-0003-1312-1090)
- Manel Bellalah
- Najla Soyeh
- Ali G. Saad
- Hamza Hadj Abdallah
- Faouzi Maatouk
- Mejaouel Houssine
- Oussama Mghirbi
- Amira Benzarti
- Chokri Kortas
- Sahbi Ghanmi
- Fatma Chouikh
- Tarek Kemis
- Ahmed Rassass
- Soumaya Mougou-Zerelli
- Aouina Ammar
- Nadia Hassine
- Farouk Bahri
- Moez Gribaa
- Mkaddem Hayet
- Houcemeddine Othmane
- Abdallah Mahdhaoui
Institutions
- University of Monastir (TN)
- Wockhardt (United States) (US)
- Hôpital Farhat Hached (TN)
- Higher Institute of Management (RU)
- Hôpital Sahloul (TN)
- Ibn Sina Hospital (KW)
- Hospital Fatuma Bourguiba Monastir (TN)
- University of Kairouan (TN)
- University of Sousse (TN)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2026-02-14
- DOI
- https://doi.org/10.1186/s13039-026-00749-4
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00