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

Nishitha R. Pillai, Dana Marafi, Sonia A. Monteiro, Mered Parnes, Binoy Mathew Chandy, Ankita Patel, Carlos A. Bacino, Amy M. Breman, Lindsay C. Burrage

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

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.

Original languageEnglish (US)
Article number103531
JournalEuropean Journal of Medical Genetics
Volume62
Issue number6
DOIs
StatePublished - Jun 2019
Externally publishedYes

Keywords

  • 6p21.31
  • Aberrant descending aorta
  • Deletion
  • Developmental delay
  • Laryngeal cleft
  • Speech delay

PubMed: MeSH publication types

  • Case Reports
  • Journal Article

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