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 language | English (US) |
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Article number | 103531 |
Journal | European Journal of Medical Genetics |
Volume | 62 |
Issue number | 6 |
DOIs | |
State | Published - Jun 2019 |
Externally published | Yes |
Keywords
- 6p21.31
- Aberrant descending aorta
- Deletion
- Developmental delay
- Laryngeal cleft
- Speech delay
PubMed: MeSH publication types
- Case Reports
- Journal Article