Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

Abstract Background Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the tissue-limited mosaicism of the isochromosome 12p [i(12p)]. There were a...

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Bibliographic Details
Main Authors: Ting Wang, Congmian Ren, Dan Chen, Jian Lu, Li Guo, Laiping Zheng, Yuan Liu, Hanbiao Chen
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Molecular Cytogenetics
Subjects:
Pallister-Killian syndrome
Prenatal diagnosis
Isochromosome 12p
Cord blood
Ultrasound findings
Online Access:http://link.springer.com/article/10.1186/s13039-019-0449-x

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http://link.springer.com/article/10.1186/s13039-019-0449-x

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