8p11 Microduplication Is Associated with Neonatal Stridor

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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.

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Puvabanditsin, S., Gengel, N., Botti, C., Jacob, M., Jalil, M., Cabrera, K., & Mehta, R. (2019). 8p11 Microduplication Is Associated with Neonatal Stridor. Molecular Syndromology, 9(6), 324–327. https://doi.org/10.1159/000494796

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