These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
    Author: Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H.
    Journal: Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671.
    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.
    [Abstract] [Full Text] [Related] [New Search]