Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman
Author:
Affiliation:
1. Prenatal Diagnosis Center Beijing Haidian Maternal and Child Health Hospital Beijing P. R. China
2. Annoroad Gene Technology Co. Ltd Beijing P. R. China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.868
Reference23 articles.
1. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics
2. Dysmorphie complexe avec oligophrénie: délétion des bras courts d’un chromosome 17–18;Grouchy J.;Comptes Rendus De L'académie Des Sciences,1963
3. Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality
4. 18p deletion syndrome: Case report with clinical consideration and management
5. Discordant non-invasive prenatal testing (NIPT) - a systematic review
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2. Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies;Taiwanese Journal of Obstetrics and Gynecology;2022-05
3. Fallopian tube endometriosis in women undergoing operative video laparoscopy and its clinical implications;Fertility and Sterility;2020-11
4. A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing;Molecular Cytogenetics;2019-12
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