8p11 Microduplication Is Associated with Neonatal Stridor

Molecular syndromology

Surasak Puvabanditsin¹ 

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

DOI  :  10.1159/000494796

学科分类：基础医学

来源: S Karger AG

【 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.

【 授权许可】

CC BY