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The TBL1XR1 gene product is a nuclear protein ubiquitously produced. The protein is a component of SMRT/N-CoR co-repressor complexes and participates in the molecular switch of specific gene transcription. Deletions of the TBL1XR1 gene have been described in two families to date, both presenting intellectual disability and dysmorphisms. Rare recurrent chromosomal micro-rearrangements, particularly those involving single genes, represent a challenge for clinicians to ensure correlation with phenotype due to the paucity of previously described cases. Here we present a patient harbouring a TBL1XR1 gene deletion detected by chromosome microarray analysis. In addition to intellectual disability, the patient presents dysmorphic features and multiple cardiac malformations, together with brain malformation, thus contributing to the phenotypic characterization of this rare microdeletion and to the TBL1XR1 gene function.

s e267Subsequent BSI developed in 6 (20%) of 30 episodes in which empiric antibiotic treatment were inappropriate while but in 3 (4%) of 82 episodes in which empiric antibiotic treatment were appropriate (P = .01).Conclusion: In patients with isolated positive HC-drawn blood cultures, the overall incidence of subsequent BSI was 8.0%. Isolation of Candida species and inappropriate empiric treatment were associated with development of subsequent BSI.

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