Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

Copy number variants and indels in 251 families with evidence of X-linked intellectual disability (XLID) were investigated by array comparative genomic hybridization on a high-density oligonucleotide X chromosome array platform. We identified pathogenic copy number variants in 10% of families, with mutations ranging from 2 kb to 11 Mb in size. The challenge of assessing causality was facilitated by prior knowledge of XLID-associated genes and the ability to test for cosegregation of variants with disease through extended pedigrees.

Use of the bacteriology laboratory to decrease general practitioners' antibiotic prescribing.

Objective: Use of the bacteriology laboratory to guide antibiotic prescribing in primary care is often considered inappropriate due to difficulties of access in a relevant time scale. The overnight analysis offered to general practitioners in the Grampian area of Scotland for the past 6 years (ABLE), and which had previously been shown to reduce antibiotic prescribing by two-thirds in a randomized controlled trial, was audited to see if it was being used correctly in general practice, that is to reduce unnecessary antibiotic prescribing.

Methods: 699 consultations were audited.