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The value of chromosomal microarray analysis (CMA) in identifying causative copy number variants in children affected by developmental delay is well described, most recently by the excellent review from Srour and Shevell1 in this journal. As with many novel diagnostic technologies however, the power of CMA to make biological observations in unprecedented detail also carries the possibility of revealing findings whose clinical significance is not fully understood, such as variants of variable expressivity or incomplete penetrance. The potential for such findings to carry stigma should not be overlooked.2
Between 1 August 2012 and 31 July 2013, 525 children in Greater Glasgow were newly subject to a care order from their local authority for reasons including neglect or abuse.3 Against a backdrop of high maternal substance abuse, such ‘looked after children’ (LAC) are often placed with relatives, foster carers or in residential units, and many subsequently come to medical attention with developmental delay. Within the same period, our service received 262 requests for CMA analysis from child development clinics in Greater Glasgow. Six were specifically received from the Looked After and Accommodated …
Contributors The observations described in this communication were first made by JLT. MJH, SJ, NM and NMS contributed to developing the concept. NMS reviewed the background literature. SJ and NM produced the quoted data relating to the West of Scotland Genetics Service. MJH wrote the communication and subsequent revision in discussion with NM and SJ.
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.