Akademik Veri Yönetim Sistemi
European Human Genetics Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1
Background: Segmental copies in chromosome 16 render the chromosome unstable and
predispose it to producing Copy Number Variations (CNVs). However incomplete penetrance
and diverse phenotypes, complicate prenatal genetic counseling. We analyzed the prenatal
ultrasound and postnatal phenotypic characteristics associated with chromosome 16 CNVs
to improve diagnosis and monitoring of this disease in the cases.
Methods: We screened cases that underwent karyotyping and CMA from 2008 to 2023. We
selected 37 cases with anomalies in chromosome 16, involving 19 prenatal and 18 postnatal
cases, and characterized their phenotypes based on medical records. Additionally, the type
and parental origin of these CNVs were determined.
Result: We detected 37 CNVs, including 15 microdeletions and 17 microduplications, and
five showed apparently balanced rearrangement with potential clinical significance. Of these
CNV’s, 20 were microdeletion/microduplication syndromes involving distinct genomic regions
previously defined as 16p13.11, 16p12.2, 16p11.2 and 16p13.3 microdeletions, as well as 16
p11.2-p12.2 and 16p11.2 microduplications. The remaining 17 CNVs are reported less
frequently and include 16p13.11p12.3 deletions/duplication, anomalies of the q arm of
chromosome 16, marker chromosome, balanced chromosomal rearrangements, and
complex chromosomal anomaly involving chromosome 16. Of these, 19 cases were verified
by pedigree, with 7/19 cases de novo and the rest being familial.
Conclusion: Our findings can contribute to the creation of a chromosome 16 disease map
based on regions that may be associated with disease development. The phenotypic
outcome cannot be predicted owing to the variable expressivity and incomplete penetrance
of these CNVs.