Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome
Use of advanced molecular diagnostic techniques in combination with cytogenetic methods allows for precise characterization of CCRs and detection of molecular mechanisms of their origin. Phenomenon of chromothripsis can be causative of rare genetic syndromes such as SCS.
Authors
- Nela Maksimović (ORCID: https://orcid.org/0000-0002-5815-573X)
- A. Jurisic (ORCID: https://orcid.org/0000-0002-9540-7123)
- Dijana Perović (ORCID: https://orcid.org/0000-0003-1077-2373)
- Mina Toljić
- Tatjana Damnjanović (ORCID: https://orcid.org/0000-0003-0479-0620)
- Ivana Joksić
Institutions
- American Association of Endodontists (US)
- University of Belgrade (RS)
- Centar za Promociju Nauke (RS)
Publication Details
- Journal
- Taiwanese Journal of Obstetrics and Gynecology
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.tjog.2024.09.023
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00