8p11 Microduplication Is Associated with Neonatal Stridor

[摘要] 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.

[学科分类] 基础医学

[关键词] Chromosomal microduplication;Congenital anomaly;Developmental delay;Neonatal stridor;8p11.21 microduplication