Paternal uniparental disomy for chromosome 14: prenatal management

We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks’ gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks’ gestation, an amniocentesis was per...

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Bibliografiske detaljer
Udgivet i:BMJ Case Rep
Main Authors: Igreja da Silva, Joana Isabel, Ribeiro, Barbara, Cadilhe, Alexandra, Nogueira-Silva, Cristina
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2019
Fag:
Rare Disease
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6954787/
https://ncbi.nlm.nih.gov/pubmed/31892621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-231705
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