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Case Reports
. 2013 May;17(3):316-20.
doi: 10.1016/j.ejpn.2012.12.004. Epub 2013 Jan 24.

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

Eirini Tsoutsou  1 , Maria Tzetis, Krinio Giannikou, Areti Syrmou, Vasilis Oikonomakis, Konstantina Kosma, Anastasia Kanioura, Emmanuel Kanavakis, Helen Fryssira
Affiliations
Case Reports

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

Eirini Tsoutsou et al. Eur J Paediatr Neurol. 2013 May.

Abstract

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.

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