Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus

Clin Genet. 1998 Dec;54(6):522-5. doi: 10.1111/j.1399-0004.1998.tb03774.x.

Abstract

Transient neonatal diabetes mellitus occurs in growth-retarded infants, has an incidence of 1 in 400000 live births and has been associated with both paternal uniparental disomy of chromosome 6 and paternal duplications of 6q. We analysed samples from our cohort of patients with transient neonatal diabetes mellitus for uniparental disomy of chromosome 6 using polymorphic microsatellite repeat analysis. We report here the fifth case of paternal uniparental disomy of chromosome 6 associated with classic transient neonatal diabetes mellitus and estimate that uniparental disomy of chromosome 6 accounts for approximately one fifth of cases of transient neonatal diabetes mellitus.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 6*
  • Diabetes Mellitus / genetics*
  • Female
  • Genomic Imprinting*
  • Humans
  • Pregnancy