Literature DB >> 22876586

A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism.

A Değerliyurt1, S Ceylaner, H Ozdağ.   

Abstract

We report an 11year-old female with 7q11.23 microduplication detected by an array-CGH test performed because of her atypical facial appearance while being followed-up with diagnoses of epilepsy and cerebral palsy at the pediatric neurology department since she was 3 months old. We emphasize that the facial phenotype by itself should arise suspicion of the 7q11.23 duplication.

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Year:  2012        PMID: 22876586

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  2 in total

1.  Children with 7q11.23 duplication syndrome: psychological characteristics.

Authors:  Carolyn B Mervis; Bonita P Klein-Tasman; Myra J Huffman; Shelley L Velleman; C Holley Pitts; Danielle R Henderson; Janet Woodruff-Borden; Colleen A Morris; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

2.  7q11.23 Duplication syndrome: Physical characteristics and natural history.

Authors:  Colleen A Morris; Carolyn B Mervis; Alex P Paciorkowski; Omar Abdul-Rahman; Sarah L Dugan; Alan F Rope; Patricia Bader; Laura G Hendon; Shelley L Velleman; Bonita P Klein-Tasman; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-09-03       Impact factor: 2.802

  2 in total

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