8p 11 Microduplication Is Associated with Neonatal Stridor.
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ABSTRACT:
SUBMITTER: Puvabanditsin S
PROVIDER: S-EPMC6381896 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Publications
8p 11 Microduplication Is Associated with Neonatal Stridor.
Puvabanditsin Surasak S Gengel Natalie N Botti Christina C Jacob Marianne M Jalil Maaz M Cabrera Kenya K Mehta Rajeev R Mehta Rajeev R
Molecular syndromology 20181120 6
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. ...[more]
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