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Balanceret translokation hos en patient med abortus habitualis og normal karyotype

Forfatter(e)
Noor Al-Saudi1, Tina Duelund Hjortshøj2, Henriette Svarre Nielsen3 & Finn Stener Jørgensen1 1) Ultralydklinikken, Gynækologisk-Obstetrisk Afdeling,
Hvidovre Hospital2) Kennedy Centret, Klinisk Genetisk Klinik, Rigshospitalet 3) Enheden for Gentagne Graviditetstab, Fertilitetsklinikken, Rigshospitalet

Ugeskr Læger 2019;181:V04190231
Reference: 
Ugeskr Læger 2019;181:V04190231
Blad nummer: 

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.

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