Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly

Eur J Med Genet. 2019 Jun;62(6):103531. doi: 10.1016/j.ejmg.2018.08.012. Epub 2018 Aug 22.


Interstitial deletions involving chromosome region 6p21.31p21.2 have not been previously reported in the literature. Here, we present a 2 year old girl with global developmental delay, severe speech delay, dysmorphic features, laryngeal cleft, anterior descending aorta that occluded the left main bronchus and a novel de novo deletion of chromosome 6: arr[hg19] 6p21.31p21.2 (35462950-36725083)x1. The deletion, which was diagnosed by array comparative genomic hybridization and further confirmed with fluorescence in situ hybridization, was approximately 1.26 Mb and contained 28 RefSeq genes. The deleted region includes 24 protein coding genes and 4 non-coding genes. This represents a novel microdeletion that has not been previously reported in the literature.

Keywords: 6p21.31; Aberrant descending aorta; Deletion; Developmental delay; Laryngeal cleft; Speech delay.

Publication types

  • Case Reports

MeSH terms

  • Aorta, Thoracic / abnormalities*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosomes, Human, Pair 6 / genetics*
  • Congenital Abnormalities / genetics*
  • Congenital Abnormalities / pathology
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Female
  • Humans
  • Larynx / abnormalities*
  • Larynx / pathology
  • Syndrome

Supplementary concepts

  • Laryngeal cleft