8p 11 Microduplication Is Associated with Neonatal Stridor

Molecular Syndromology
Surasak PuvabanditsinRajeev Mehta

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.

References

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Jan 20, 2006·Nature·Chad NusbaumEric S Lander
May 13, 2010·European Journal of Human Genetics : EJHG·Shihui YuWilliam D Graf
Aug 15, 2015·Clinical Case Reports·Juliana H Vander PluymFrancois V Bolduc

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Citations

Dec 20, 2019·Omics : a Journal of Integrative Biology·Majed J DasoukiDilek Colak
Jul 21, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Volkan OkurWendy K Chung

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