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 journalArticle

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

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
Puvabanditsin, Surasak ; Gengel, Natalie ; Botti, Christina ; Jacob, Marianne ; Jalil, Maaz ; Cabrera, Kenya ; Mehta, Rajeev. / 8p11 Microduplication Is Associated with Neonatal Stridor. In: Molecular Syndromology. 2019 ; Vol. 9, No. 6. pp. 324-327.
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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, vol. 9, no. 6, pp. 324-327. https://doi.org/10.1159/000494796

8p11 Microduplication Is Associated with Neonatal Stridor. / Puvabanditsin, Surasak; Gengel, Natalie; Botti, Christina; Jacob, Marianne; Jalil, Maaz; Cabrera, Kenya; Mehta, Rajeev.

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

Research output: Contribution to journalArticle

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Puvabanditsin S, Gengel N, Botti C, Jacob M, Jalil M, Cabrera K et al. 8p11 Microduplication Is Associated with Neonatal Stridor. Molecular Syndromology. 2019 Jan 1;9(6):324-327. https://doi.org/10.1159/000494796