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?

Eur J Med Genet. 2012 Dec;55(12):758-62. doi: 10.1016/j.ejmg.2012.09.011. Epub 2012 Oct 9.

Abstract

While deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller-Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder. We report a Chinese newborn presenting with dysmorphic features, microcephaly and valvar aortic stenosis, who was confirmed to have a 790 kb microduplication in chromosome 17p13.3 by array comparative genomic hybridization (aCGH). The patient passed away at 4 months of age with presumably life-threatening event associated with his cardiac condition. From literature review, congenital heart diseases of various kinds were identified in up to 20% of patients with 17p13.3 microduplication. We propose cardiac assessment should be part of the comprehensive evaluation of these patients.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Aortic Valve Stenosis / genetics*
  • Chromosomes, Human, Pair 17 / genetics
  • Facies
  • Fatal Outcome
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Microcephaly / genetics*
  • Phenotype
  • Trisomy / diagnosis
  • Trisomy / genetics*

Supplementary concepts

  • Chromosome 17, trisomy 17p