Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation

A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. Array-CGH analysis revealed one of the smallest de novo microdeletions on chromosome 16q21q22.1, 2.03 Mb in size. Advanced molecular analysis contributes to more precise genotype–phenotype correlation and accurate definition of the breakpoints in the deleted/duplicated regions.