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Updated: May 12, 2026

Fetal Echocardiography and Pulsed-wave Doppler Ultrasound in a Rabbit Model of Intrauterine Growth Restriction
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Segmental Maternal UPD6 with Prenatal Growth Restriction.

G Poke1, M Doody, J Prado

  • 1Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Qld., Australia.

Molecular Syndromology
|April 20, 2013
PubMed
Summary
This summary is machine-generated.

This study details a child with segmental maternal uniparental isodisomy of chromosome 6, presenting with growth restriction and developmental delay. The findings suggest potential imprinting defects or unmasked recessive conditions.

Keywords:
Failure to thriveIntrauterine growth restrictionUPD6Uniparental disomy

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Uniparental disomy (UPD) involves inheriting two copies of a chromosome from one parent.
  • Maternal UPD of chromosome 6 is associated with intrauterine growth restriction.
  • Paternal UPD of chromosome 6 is linked to transient neonatal diabetes mellitus.

Observation:

  • A child presented with segmental maternal uniparental isodisomy of chromosome 6 (distal 6q).
  • Clinical manifestations included prenatal growth restriction, global developmental delay, and severe gastro-esophageal reflux disease.
  • SNP microarray confirmed the genetic abnormality.

Findings:

  • The patient exhibited features not typically associated with maternal UPD 6, such as global developmental delay and reflux.
  • The segmental nature of the isodisomy may influence the phenotype.
  • The findings prompt consideration of imprinting dysregulation or unmasking of recessive alleles.

Implications:

  • This case expands the known phenotypic spectrum of maternal UPD 6.
  • It highlights the importance of considering imprinting disorders in cases of unexplained developmental delay and growth issues.
  • Further research into imprinting centers on chromosome 6 is warranted.