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

Chih Ling Chen, Chien Nan Lee, Ming Wei Lin, Wen Wei Hsu, Yi Yun Tai, Shin Yu Lin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

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 have been published. We report a case of a fetus with abnormal ultrasound features at 18 weeks of gestation and normal karyotype result. Subsequent Single nucleotide polymorphism (SNP)-based Affymetrix 750K Microarray analysis revealed the complete loss of heterozygosity for chromosome 14, identifying a case of uniparental disomy. Postmortem examination of the aborted fetus at 21 weeks, coupled with further Affymetrix 750K microarray analysis on the parents, confirmed the diagnosis of parental uniparental disomy for chromosome 14.

Original languageEnglish
Pages (from-to)739-742
Number of pages4
JournalJournal of the Formosan Medical Association
Volume118
Issue number3
DOIs
StatePublished - Mar 2019

Keywords

  • Paternal uniparental disomy 14
  • Prenatal diagnosis
  • Uniparental disomy

Fingerprint

Dive into the research topics of 'Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report'. Together they form a unique fingerprint.

Cite this