Journal Article

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 D. McPherson, Stuart K. Shapira and Lisa G. Shaffer

in Human Molecular Genetics

Volume 8, issue 2, pages 313-321
Published in print February 1999 | ISSN: 0964-6906
Published online February 1999 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/8.2.313
Molecular Refinement of the 1p36 Deletion Syndrome Reveals Size Diversity and a Preponderance of Maternally Derived Deletions

Show Summary Details

Preview

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.

Journal Article.  6299 words.  Illustrated.

Subjects: Genetics and Genomics

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.