Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue-Reference-Cited by-同舟云学术

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

Published:2013-03-27 Issue:6 Volume:33 Page:598-601
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Pan Min¹,Li Fa Tao¹,Li Yan¹,Jiang Fu Man²,Li Dong Zhi¹,Lau Tze Kin³,Liao Can¹

Affiliation:

1. Prenatal Diagnostic Center; Guangzhou Women and Children's Medical Center; Guangzhou Guangdong China

2. BGI-Shenzhen; Shenzhen China

3. Fetal Medicine Centre; Paramount Clinic; Hong Kong

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference10 articles.

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2. Mechanisms leading to uniparental disomy and their clinical consequences;Robinson;Bioessays,2000

3. Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection;Engel;Am J Med Genet,1991

4. Confined placental mosaicism;Kalousek;J Med Genet,1996

5. Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism;Masuzaki;J Med Genet,2004

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