8p11 Microduplication Is Associated with Neonatal Stridor

Surasak Puvabanditsin; Natalie Gengel; Christina Botti; Marianne Jacob; Maaz Jalil; Kenya Cabrera; Rajeev Mehta

doi:10.1159/000494796

8p11 Microduplication Is Associated with Neonatal Stridor

Surasak Puvabanditsin, Natalie Gengel, Christina Botti, Marianne Jacob, Maaz Jalil, Kenya Cabrera, Rajeev Mehta

Robert Wood Johnson Medical School (RWJMS), Pediatrics, Division of Neonatology

Research output: Contribution to journal › Article

2 Scopus citations

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)
Pages (from-to)	324-327
Number of pages	4
Journal	Molecular Syndromology
Volume	9
Issue number	6
DOIs	https://doi.org/10.1159/000494796
State	Published - Jan 1 2019

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All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

Cite this

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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Access to Document

10.1159/000494796