Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

Biochemistry, Genetics and Molecular Biology

• Bacterial Artificial Chromosome 25%
• Birth 25%
• Candidate Gene 50%
• Chromosome 25%
• Chromosome 14 50%
• Clone 25%
• Cytogenetics 25%
• Dysplasia 100%
• Fluorescence in Situ Hybridization 25%
• Incidence 25%
• Inversion 100%
• Light 25%
• Phenotype 50%
• Proband 25%

INIS

• birth 25%
• chromosomes 100%
• defects 25%
• ears 25%
• fluorescence 25%
• genes 50%
• in-situ hybridization 25%
• mapping 25%
• maps 25%
• phenotype 50%

Keyphrases

• Chromosome 14q32 25%
• Epibulbar Dermoid 25%
• Goldenhar Syndrome 100%
• Hemifacial Microsomia 25%
• Potential Candidate Gene 25%
• Second Branchial Arch 25%
• Variable Phenotype 25%
• Vertebral Anomalies 25%