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Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

Takafumi Watanabe1, Hayato Go2, Masayo Kagami3

  • 1Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine, Fukushima, Japan.

The Journal of Obstetrics and Gynaecology Research
|February 7, 2015
PubMed

Insights

This study details a rare genetic condition, epimutation, mimicking paternal uniparental disomy for chromosome 14 (UPD(14)pat). Findings highlight distinct prenatal and neonatal features associated with this UPD(14)pat-like phenotype.

Area of Science:

  • Genetics
  • Developmental Biology
  • Epigenetics

Background:

  • Paternal uniparental disomy for chromosome 14 (UPD(14)pat) presents distinct phenotypes due to alterations in the 14q32.2 imprinted region.
  • Understanding imprinting disorders is crucial for diagnosing complex genetic conditions.

Observation:

  • Prenatal ultrasound revealed a narrow thorax and polyhydramnios.
  • Neonatal examination showed a small narrow thorax, diastasis recti, and specific dysmorphic facial features.
  • Placentomegaly was identified after delivery.

Findings:

  • The case presented an epimutation associated with a UPD(14)pat-like phenotype.
  • Genetic analysis confirmed epimutation at the intergenic differentially methylated region (IG-DMR) and MEG3-DMR.

Implications:

  • This case expands the understanding of genetic alterations causing UPD(14)pat-like phenotypes.
  • Highlights the importance of considering epimutations in imprinting disorders.
  • Provides valuable data for prenatal and neonatal diagnosis of similar conditions.

Keywords:
chromosome 14epimutationimprintingpaternal uniparental disomyprenatal diagnosis

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