Open Access8p11 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.