Balanceret translokation hos en patient med abortus habitualis og normal karyotype

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This is a case report of a 36-year-old woman with un-explained recurrent pregnancy loss, and during her recent pregnancy there were signs of hydrops foetalis. Chorionic villus sampling with array-comparative genomic hybrid-isation revealed an 8.6 Mb duplication of 6q26q27 and a deletion of 14q32.31q32.33. Subsequent genetic exam-inations of the parents with fluorescence in situ hybrid-isation 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.

Original languageDanish
Article numberV04190231
JournalUgeskrift for Laeger
Issue number38
Number of pages2
Publication statusPublished - 2019

ID: 238486135