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

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

doi:10.1016/j.ejpn.2012.12.004

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

Eur J Paediatr Neurol. 2013 May;17(3):316-20. doi: 10.1016/j.ejpn.2012.12.004. Epub 2013 Jan 24.

Authors

Eirini Tsoutsou¹, Maria Tzetis, Krinio Giannikou, Areti Syrmou, Vasilis Oikonomakis, Konstantina Kosma, Anastasia Kanioura, Emmanuel Kanavakis, Helen Fryssira

Affiliation

¹ Department of Medical Genetics, University of Athens Medical School, Choremio Research Laboratory, Aghia Sophia Childrens Hospital, Thivon and Levadias, Goudi, Athens, Greece.

PMID: 23352671
DOI: 10.1016/j.ejpn.2012.12.004

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 16 / genetics*
Comparative Genomic Hybridization
Craniofacial Abnormalities / genetics
Female
Genetic Association Studies
Heart Defects, Congenital / genetics
Humans
Intellectual Disability / genetics*
Microcephaly / genetics