Uniparental disomy in congenital disorders: A prospective study

N. M. Lindor, P. S. Karnes, V. V. Michels, G. W. Dewald, J. Goerss, S. Jalal, R. B. Jenkins, G. Vockley, S. N. Thibodeau

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Whole chromosome uniparental disomy (UPD) for several different chromosomes has been described in individuals with phenotypes that encompass a broad range of abnormalities. We prospectively searched for UPD in 25 cytogenetically normal individuals who had one or more of the following features: nonsyndromic multiple congenital anomalies, short stature, mental retardation, or dysmorphic findings. Using highly polymorphic microsatellite repeats, biparental inheritance of at least one locus on every chromosome was found in every individual and uniparental inheritance was not detected at any locus. If UPD does exist in this clinical setting, its frequency is less than 13.7% (95% confidence interval). Our data indicate that additional studies will be required to determine the true incidence of UPD in this population.

Original languageEnglish (US)
Pages (from-to)143-146
Number of pages4
JournalAmerican journal of medical genetics
Issue number2
StatePublished - 1995


  • developmental delay
  • imprinting
  • mental retardation
  • multiple congenital anomalies
  • short stature
  • uniparental disomy

ASJC Scopus subject areas

  • Genetics(clinical)


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