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- W144804547 abstract "The del(9p) syndrome is characterized by mental retardation, trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, a long philtrum, and is typically associated with a breakpoint at 9p22. Seventeen unrelated patients with del(9p) and their parents were analyzed by high resolution chromosome studies, molecular analysis using a series of highly polymorphic dinucleotide repeat markers for 9p, and fluorescence in situ hybridization (FISH) to characterize precisely the extent of chromosome loss. Eleven patients were found to have an interstitial deletion with breakpoints assigned to 9p22.1 and 9p24.3 in most cases. Two patients had familial unbalanced translocations of maternal origin and four had de novo complex rearrangements identified by high resolution analysis and FISH utilizing chromosome libraries. PCR analysis of eleven families with eight minisatellite markers determined paternal origin of the deletion in six cases and maternal origin in five. This suggests that the molecular event resulting in the deletion is equally prevalent in both male and female gametogenesis and that genomic imprinting does not play a role in the pathogenesis of del(9p) syndrome. Increased precision in mapping these minisatellite markers was also possible through this work. This study demonstrates the existence of molecular heterogeneity as six patients with a cytological breakpoint atmore » 9p22.1 revealed three different molecular breakpoints. These findings suggest that genotype-phenotype correlations in deletion syndromes such as this should be based on high-resolution molecular analysis of the deleted chromosome segment. Work is in progress to map a series of cosmid probes by FISH relative to chromosomal breakpoints in these patients. These combined studies should provide a better understanding of the mechanisms involved in the pathogenesis of del(9p) syndrome and may identify loci where genes responsible for one or more aspects of the del(9p) phenotype may reside.« less" @default.
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- W144804547 date "1994-09-01" @default.
- W144804547 modified "2023-09-23" @default.
- W144804547 title "Molecular and cytogenetic characterization of del(9p) syndrome" @default.
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