Akademik Veri Yönetim Sistemi
European Human Genetics Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.2383, (Tam Metin Bildiri)
Background: Failure to achieve a healthy pregnancy or losing consecutive pregnancies is called a
reproductive problem, and affects approximately 15% of couples. Conventional cytogenetic techniques
are still crucial for uncovering microscopic chromosomal changes in these patients, but there is still
unclear territory for non-microscopic ones. This project aims to identify submicroscopic changes in the
pericentromeric regions of acrocentric chromosomes.
Methods: In this ongoing project, 20 couples with infertility or recurrent pregnancy loss (without
evidence of non-genetic factors or on routine genetic testing), were re-examined. Fluorescent in situ
hybridization (FISH) analysis was performed by means of newly designed probes that stain the
pericentromeric regions of acrocentric chromosomes (13-15, 21, and 22) and their alpha-satellite
regions. The brief abstract of the first results was presented at 15th National Congress of Medical
Genetics in May 2022.
Results: In two couples we found aberrant patterns with the applied FISH-probe sets. An invisible
reciprocal translocation emerged between Chr.15 and Chr.22. One couple never had a live birth, while
the other had a dysmorphic child due to adjacent-2 segregation resulting from translocation. Additional
FISH analysis of the affected child revealed three copies of the Histone Cell Cycle Regulator gene
located in the 22q11 region.
Conclusion: With this study, the detection of hidden microscopic changes in acrocentric chromosomes
investigates the causal cause of reproductive problems and also offers the opportunity for
preimplantation and/or prenatal genetic diagnosis.
Grants: The Scientific and Technological Research Council of Turkey (TÜBİTAK) supported this
project with no. 123S240 as 1002-Short-Term Support Module.