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

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

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

Authors: Eirini Tsoutsou Tzetis, Maria Giannikou, Krinio Syrmou, Areti Oikonomakis, Vasilis Kosma, Konstantina Kanioura, Anastasia Kanavakis, Emmanuel Fryssira, Helen
Publication date: 1 January 2013
Publisher

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. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved

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