Balanceret translokation hos en patient med abortus habitualis og normal karyotype
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Balanceret translokation hos en patient med abortus habitualis og normal karyotype. / Al-Saudi, Noor; Hjortshøj, Tina Duelund; Nielsen, Henriette Svarre; Jørgensen, Finn Stener.
In: Ugeskrift for Laeger, Vol. 181, No. 38, V04190231, 2019.Research output: Contribution to journal › Letter › Research › peer-review
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TY - JOUR
T1 - Balanceret translokation hos en patient med abortus habitualis og normal karyotype
AU - Al-Saudi, Noor
AU - Hjortshøj, Tina Duelund
AU - Nielsen, Henriette Svarre
AU - Jørgensen, Finn Stener
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
M3 - Letter
C2 - 31538580
VL - 181
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 38
M1 - V04190231
ER -
ID: 238486135