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Growth parameters in maternal uniparental disomy 7 and 14

Dieter Kotzot1

  • 1Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schoepfstr. 41, A-6020, Innsbruck, Austria. DieterKotzot@gmx.de

European Journal of Pediatrics
|January 5, 2007
PubMed

Insights

Maternal uniparental disomy (UPD) 7 and 14 cause significant growth retardation. Maternal UPD 7 is associated with persistent growth issues and relative macrocephaly, while maternal UPD 14 shows distinct growth patterns, suggesting differing imprinting effects.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Maternal uniparental disomy (UPD) involves inheriting both copies of a chromosome from the mother.
  • Growth retardation is a known, yet unquantified, feature of maternal UPD 7 and 14.
  • This study systematically analyzes auxological data from literature for maternal UPD 7 and 14.

Observation:

  • Maternal UPD 7 cases exhibit severe prenatal and postnatal growth retardation in length and weight.
  • Occipitofrontal head circumference (OFC) is mildly reduced in maternal UPD 7.
  • Maternal UPD 14 presents with concordant growth retardation in length, weight, and OFC at birth.

Findings:

  • Maternal UPD 7 patients show persistent growth deficits and relative macrocephaly into adulthood.
  • Maternal UPD 14 patients display above-average body mass index (BMI) post-puberty with increasing trends.
  • Growth trajectories for height, BMI, and OFC differ significantly between maternal UPD 7 and maternal UPD 14.

Implications:

  • Growth retardation and relative macrocephaly in maternal UPD 7 are of prenatal origin and persist throughout life.
  • Distinct growth patterns in maternal UPD 14 suggest varied impacts on development.
  • Genomic imprinting likely plays a crucial role, functioning differently in maternal UPD 7 versus maternal UPD 14.
Abstract

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