Noor Al-Saudi, Tina Duelund Hjortshøj, Henriette Svarre Nielsen & Finn Stener Jørgensen:
Balanced translocation in a patient with abortus habitualis and normal karyotype
Ugeskr Læger 2019;181:V04190231
This is a case report of a 36-year-old woman with unexplained recurrent pregnancy loss, and during her recent pregnancy there were signs of hydrops foetalis. Chorionic villus sampling with array-comparative genomic hybridisation revealed an 8.6 Mb duplication of 6q26q27 and a deletion of 14q32.31q32.33. Subsequent genetic examinations of the parents with fluorescence in situ hybridisation showed a submicroscopically balanced translocation on the patient‘s chromosomes 6 and 14, which explained her recurrent abortions, and which could not be detected with the conventional genetic testing G-band-karyotyping.