| Literature DB >> 30800050 |
Surasak Puvabanditsin1, Natalie Gengel1, Christina Botti2, Marianne Jacob1, Maaz Jalil1, Kenya Cabrera1, Rajeev Mehta1.
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.Entities:
Keywords: 8p11.21 microduplication; Chromosomal microduplication; Congenital anomaly; Developmental delay; Neonatal stridor
Year: 2018 PMID： 30800050 PMCID： PMC6381896 DOI： 10.1159/000494796
Source DB: PubMed Journal: Mol Syndromol ISSN： 1661-8769