Syndrome diagnosis with single‐nucleotide polymorphism (SNP) microarray

Genetic testing of aetiology of intellectual disability in adults – the need for collaboration between paediatricians and adult physicians

“…SNP microarrays are more sensitive for mosaicism, duplications or deletions of parts of whole chromosomes and the absence of heterozygosity of chromosomes or parts of chromosomes with or without any copy number changes. This was shown in a recent case series in the Journal of Paediatrics and Child Health where SNP arrays detected abnormalities that were previously missed by CGH microarrays . This facilitated appropriate syndromic diagnoses.…”