The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization

Am J Med Genet A. 2016 Sep;170(9):2416-20. doi: 10.1002/ajmg.a.37797. Epub 2016 Jun 23.

Abstract

Duplications of the long arm of chromosome 6 have been previously reported in a limited number of patients; however, most reported duplications encompass regions of chromosome 6 distal to band q21. Duplications restricted to the proximal portion of 6q are rare. We report an 8-year-old male with a 16.4 megabase (Mb) tandem duplication of chromosome 6q14.1q16.1 (chr6:78950191-95395865; hg19) who exhibited dysmorphic facial features, seizures, global developmental delay, intellectual disability, autism spectrum disorder, sensorineural hearing loss, and immune deficiency. This patient refines and potentially expands the current, poorly-characterized phenotype associated with duplication of this proximal 6q region. We recommend a low threshold for a hearing evaluation beyond newborn screening and for pursuing an immune work-up in patients with similar 6q duplications. © 2016 Wiley Periodicals, Inc.

Keywords: 6q duplication; 6q14q16; immune deficiency; proximal 6q duplication; sensorineural hearing loss.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple
  • Child
  • Chromosome Banding
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 6*
  • Comparative Genomic Hybridization
  • Facies
  • Genetic Association Studies*
  • Genotype
  • Humans
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Phenotype*
  • Polymorphism, Single Nucleotide
  • Tandem Repeat Sequences*