Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects

Autor: Jansen, Fenna A. R., Hoffer, Mariette J. V., van Velzen, Christine L., Plati, Stephani Klingeman, Rijlaarsdam, Marry E. B., Clur, Sally-Ann B., Blom, Nico A., Pajkrt, Eva, Bhola, Shama L., Knegt, Alida C., de Boer, Marion A., Haak, Monique C.

Publikováno v: Prenatal diagnosis, 36(2), 177-185. John Wiley and Sons Ltd

To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated left-sided congenital heart defects (CHDs), and analyse genetic content. Between 2003 and 2012, 200 fetuses were identified with left-sided CHD. Exclusion criteria we

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https://pure.amc.nl/en/publications/chromosomal-abnormalities-and-copy-number-variations-in-fetal-leftsided-congenital-heart-defects(037c95eb-5804-4159-954c-2792af06cd29).html

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Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects.

Autor: Jansen FA; Department of Obstetrics and Fetal Medicine, Leiden University Medical Center, Leiden, the Netherlands., Hoffer MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Velzen CL; Department of Obstetrics, VU University Medical Center, Amsterdam, the Netherlands., Plati SK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Rijlaarsdam ME; Department of Pediatric Cardiology of the Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands., Clur SA; Department of Pediatric Cardiology of the Emma Children's Hospital, Academic Medical Center, Amsterdam, the Netherlands., Blom NA; Department of Pediatric Cardiology of the Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands.; Department of Pediatric Cardiology of the Emma Children's Hospital, Academic Medical Center, Amsterdam, the Netherlands., Pajkrt E; Department of Obstetrics, Academic Medical Center, Amsterdam, the Netherlands., Bhola SL; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Knegt AC; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands., de Boer MA; Department of Obstetrics, VU University Medical Center, Amsterdam, the Netherlands., Haak MC; Department of Obstetrics and Fetal Medicine, Leiden University Medical Center, Leiden, the Netherlands.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2016 Feb; Vol. 36 (2), pp. 177-85. Date of Electronic Publication: 2016 Feb 03.