A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism
Molecular cytogenetic techniques, such as microarray and FISH, are essential for detecting copy number variations at CCRs that appear to be balanced by karyotyping. Nonetheless, optical genome mapping enhances the resolution offering a valuable complement to traditional cytogenetic techniques.
Authors
- Sabri Aynacı (ORCID: https://orcid.org/0000-0001-8172-7436)
- Sevilhan Artan (ORCID: https://orcid.org/0000-0001-7658-6309)
- Çoşkun Yarar (ORCID: https://orcid.org/0000-0001-7462-4578)
- Ebru Erzurumluoğlu Gökalp (ORCID: https://orcid.org/0000-0002-1275-5174)
- Mehmet Burak Mutlu (ORCID: https://orcid.org/0000-0001-7745-8165)
- Sinem Kocagil (ORCID: https://orcid.org/0000-0003-2595-3919)
- Efsun Tosumoğlu
Institutions
- Kayseri Eğitim ve Araştırma Hastanesi (TR)
- Eskişehir Osmangazi University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-03-25
- DOI
- https://doi.org/10.1159/000545465
- Citations
- 1
- Primary Topic
- Chromosomal and Genetic Variations
- Type
- article
- Field-Weighted Citation Impact
- 1.75