8p11 Microduplication Is Associated with Neonatal Stridor

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

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

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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