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Published on: June 29, 2013
Segmental Maternal UPD6 with Prenatal Growth Restriction
1Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Qld., Australia.
Insights
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.
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.
Abstract:
We report a child with segmental maternal uniparental isodisomy of chromosome 6, involving most of the long arm distal to 6q16, detected by SNP microarray. Clinical features include prenatal growth restriction, global developmental delay, and severe gastro-esophageal reflux disease. Maternal uniparental disomy (UPD) of chromosome 6 has previously been reported to cause intrauterine growth restriction. Paternal UPD of this chromosome is well known to cause transient neonatal diabetes mellitus. We discuss reported cases of maternal UPD of chromosome 6 and consider whether our patient's features may be due to disordered imprinting or unmasking of an autosomal recessive condition.
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