8p11 Microduplication Is Associated with Neonatal Stridor | Zendy

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

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8p11 Microduplication Is Associated with Neonatal Stridor

Author(s) -

Surasak Puvabanditsin,

Natalie Gengel,

Christina Botti,

Marianne Jacob,

Maaz Jalil,

Kenya Cabrera,

Rajeev Mehta

Publication year - 2018

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000494796

Subject(s) - stridor , tracheomalacia , medicine , gene duplication , pediatrics , snp array , genetics , genotype , single nucleotide polymorphism , biology , anesthesia , airway , gene

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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