8p 11 Microduplication Is Associated with Neonatal Stridor.

Area of Science:

• Genetics
• Pediatrics
• Developmental Biology

Background:

• Congenital stridor and developmental delay are significant pediatric concerns.
• Tracheomalacia and coarctation of the aorta can present in newborns.
• Genetic factors play a crucial role in congenital anomalies and developmental outcomes.

Purpose of the Study:

• To report a case of congenital stridor and developmental delay in an infant.
• To identify the genetic cause of the observed clinical features.
• To describe the novel clinical findings associated with a specific chromosomal duplication.

Main Methods:

• Clinical assessment of a term male infant presenting with congenital stridor.
• Diagnostic evaluation including imaging for cardiac and airway anomalies.
• Whole genome SNP microarray analysis to detect chromosomal abnormalities.

Main Results:

• The infant exhibited congenital stridor due to tracheomalacia and mild coarctation of the aorta.
• Developmental delay was observed during follow-up.
• Whole genome SNP microarray identified an approximately 846-kb interstitial duplication on the short arm of chromosome 8 (8p11.21p11.1).

Conclusions:

• The identified 8p11.21p11.1 duplication is associated with a spectrum of congenital anomalies and developmental issues.
• This case expands the known clinical phenotype of this rare genetic condition.
• Further research is warranted to understand the full impact of 8p duplications.