Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with XXXX .

@entity1 @entity12705 @entity1112 @entity1274 @entity2421 @entity389 @entity717 @entity393 @entity394
BACKGROUND: @entity1274 is a common pathological manifestation in @entity1 affected by @entity1112 . A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still missing. Thus, the aim of this study is to realize a detailed clinical and molecular analysis of a family affected by @entity393 with @entity717 . RESULTS: Clinical analyses revealed a very complex phenotype that included @entity389 , @entity394 , @entity12705 and @entity2421 with a peculiar pattern of phenotypic variability. Genomic analysis revealed, for the first time, the presence of two close interstitial deletions in the Xq21.1-21.3, harboring 11 protein coding, 9 non-coding genes and 19 pseudogenes. Among these, 3 protein coding genes have already been associated with @entity393 , @entity717 and @entity12705 . CONCLUSIONS: In this study we highlighted the presence of peculiar genotypic and phenotypic details in a family affected by @entity393 with @entity717 . We identified two, previously unreported, Xq21.1-21.3 interstitial deletions. The two rearrangements, containing several genes, segregate with the clinical features, suggesting their role in the pathogenicity. However, not all the observed phenotypic features can be clearly associated with the known genes thus, further study is necessary to determine regions involved.
