Balanceret translokation hos en patient med abortus habitualis og normal karyotype

Research output: Contribution to journal › Letter › Research › peer-review

Standard

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

Harvard

Al-Saudi, N, Hjortshøj, TD, Nielsen, HS & Jørgensen, FS 2019, 'Balanceret translokation hos en patient med abortus habitualis og normal karyotype', Ugeskrift for Laeger, vol. 181, no. 38, V04190231. <https://ugeskriftet.dk/videnskab/balanceret-translokation-hos-en-patient-med-abortus-habitualis-og-normal-karyotype>

APA

Al-Saudi, N., Hjortshøj, T. D., Nielsen, H. S., & Jørgensen, F. S. (2019). Balanceret translokation hos en patient med abortus habitualis og normal karyotype. Ugeskrift for Laeger, 181(38), [V04190231]. https://ugeskriftet.dk/videnskab/balanceret-translokation-hos-en-patient-med-abortus-habitualis-og-normal-karyotype

Vancouver

Al-Saudi N, Hjortshøj TD, Nielsen HS, Jørgensen FS. Balanceret translokation hos en patient med abortus habitualis og normal karyotype. Ugeskrift for Laeger. 2019;181(38). V04190231.

Author

Al-Saudi, Noor ; Hjortshøj, Tina Duelund ; Nielsen, Henriette Svarre ; Jørgensen, Finn Stener. / Balanceret translokation hos en patient med abortus habitualis og normal karyotype. In: Ugeskrift for Laeger. 2019 ; Vol. 181, No. 38.

Bibtex

@article{ba7acd18096b4f69b097661c90c20722,
title = "Balanceret translokation hos en patient med abortus habitualis og 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.",
author = "Noor Al-Saudi and Hjortsh{\o}j, {Tina Duelund} and Nielsen, {Henriette Svarre} and J{\o}rgensen, {Finn Stener}",
year = "2019",
language = "Dansk",
volume = "181",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "38",

}

RIS

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