Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

Yuan Qing Wu, Heidi A. Heilstedt, Joseph A. Bedell, Kristin M. May, David E. Starkey, John Douglas Mcpherson, Stuart K. Shapira, Lisa G. Shaffer

Research output: Contribution to journalArticlepeer-review

85 Scopus citations


The deletion of chromosome 1p36 is a newly recognized, relatively common contiguous gene deletion syndrome with a variable phenotype. The clinical features have recently been delineated and molecular analysis indicates that the prevalence of certain phenotypic features appears to correlate with deletion size. Phenotype/genotype comparisons have allowed the assignment of certain clinical features to specific deletion intervals, significantly narrowing the regions within which to search for candidate genes. We have extensively characterized the deletion regions in 30 cases using microsatellite markers and fluorescence in situ hybridization analyses. The map order of 28 microsatellite markers spanning the deletion region was obtained by a combination of genotypic analysis and physical mapping. The deletion region was divided into six intervals and breakpoints were found to cluster in mainly two regions. Molecular analysis of the deletions showed that two patients had complex rearrangements; these cases shared their distal and proximal breakpoints in the two common breakpoint regions. Of the de novo deletions (n = 28) in which parental samples were available and the analysis was informative (n = 27), there were significantly more maternally derived deletions (n = 21) than paternally derived deletions (n = 6) (χ12 = 8.35, P < 0.0001). Phenotype/genotype correlations and refinements of critical regions in our naturally occurring deletion panel have delineated specific areas in which to focus the search for the causative genes for the features of this syndrome.

Original languageEnglish (US)
Pages (from-to)313-321
Number of pages9
JournalHuman Molecular Genetics
Issue number2
StatePublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions'. Together they form a unique fingerprint.

Cite this