| Literature DB >> 23352671 |
Eirini Tsoutsou1, Maria Tzetis, Krinio Giannikou, Areti Syrmou, Vasilis Oikonomakis, Konstantina Kosma, Anastasia Kanioura, Emmanuel Kanavakis, Helen Fryssira.
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.Entities:
Mesh：
Year: 2013 PMID： 23352671 DOI： 10.1016/j.ejpn.2012.12.004
Source DB: PubMed Journal: Eur J Paediatr Neurol ISSN： 1090-3798 Impact factor: 3.140