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

RWJ-Pediatrics-Neonatology

Research output: Contribution to journal › Article › peer-review

3 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

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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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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AU - Cabrera, Kenya

AU - Mehta, Rajeev

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