8p11 Microduplication Is Associated with Neonatal Stridor

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)324-327
Number of pages4
JournalMolecular Syndromology
Volume9
Issue number6
DOIs
StatePublished - Jan 1 2019

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Tracheomalacia
Chromosomes, Human, Pair 8
Aortic Coarctation
Respiratory Sounds
Microarray Analysis
Single Nucleotide Polymorphism
Genome
Congenital Stridor

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

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8p11 Microduplication Is Associated with Neonatal Stridor. / Puvabanditsin, Surasak.

In: Molecular Syndromology, Vol. 9, No. 6, 01.01.2019, p. 324-327.

Research output: Contribution to journalArticle

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