A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication?

ACC Ho, APY Liu, KS Lun, WF Tang, KYK Chan, EYT Lau, MHY Tang, TY Tana, BHY Chung

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)
Original languageEnglish
Pages (from-to)758-762
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume55
Issue number12
DOIs
Publication statusPublished - Dec 2012
Externally publishedYes

Keywords

  • Aortic stenosis
  • Array comparative genomic hybridization
  • Chromosome 17p13.3
  • Chromosome aberration
  • Dysmorphism
  • Microcephaly
  • Microduplication

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