Abstract
We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ∼846-kb interstitial duplication of the short arm of chromosome 8 (8p11.21p11.1). We report novel clinical findings of this rare genetic condition.
Original language | English (US) |
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Pages (from-to) | 324-327 |
Number of pages | 4 |
Journal | Molecular Syndromology |
Volume | 9 |
Issue number | 6 |
DOIs | |
State | Published - Jan 1 2019 |
All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)