Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report

Paternal uniparental disomy 14 (UDP(14)pat) is a rare imprinting disorder with a set of unique neonatal clinical features documented, including craniofacial abnormalities, thoracic and abdominal wall defects, and polyhydraminos. To date, no studies focus on prenatal diagnosis of uniparental disomy h...

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Bibliographic Details
Main Authors: Chih-Ling Chen, Chien-Nan Lee, Ming-Wei Lin, Wen-Wei Hsu, Yi-Yun Tai, Shin-Yu Lin
Format: Article
Language:English
Published: Elsevier 2019-03-01
Series:Journal of the Formosan Medical Association
Online Access:http://www.sciencedirect.com/science/article/pii/S092966461830651X