Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.

Sahinbegovic H, Andres S, Langer-Freitag S, et al. Mol Cytogenet. 2022;15(1):16. Published 2022 Apr 2. doi:10.1186/s13039-022-00592-3. Open Access: Learn more

Tags: Case Report / Case Series, 2022, International, CNVs

  • NIPT detected a 10.34 Mb terminal 15q dup (15q26.1q26.3), subsequently confirmed using karyotype, microarray, and FISH (fluorescence in situ hybridization). Karyotype results indicated an unbalanced translocation between chromosomes 15 and 18 with a final karyotype of 46,XX,der(18)t(15;18)(q26.2;q23)dn.