Balanced translocation in a patient with abortus habitualis and normal karyotype

Abstract

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.

OriginalsprogEngelsk
TidsskriftUgeskrift for Laeger
Vol/bind181
Udgave nummer38
ISSN0041-5782
StatusUdgivet - 16 sep. 2019

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