19p13.3 Deletion With Polyotia: A Case Report and Literature Review

Area of Science:

• Genetics
• Clinical Medicine

Background:

• Chromosome 19 deletions are uncommon genetic events.
• High genetic density on chromosome 19 can lead to diverse phenotypes.
• Existing literature on chromosome 19 deletions is limited and shows clinical variability.

Observation:

• A patient presented with delayed psychomotor development and severe postnatal delay.
• Distinctive features included dolichocephaly, polyotia (multiple ear anomalies), and ocular hypertelorism.
• This case represents the first reported instance of polyotia associated with a chromosome 19 deletion in Colombia.

Findings:

• Chromosome 19 deletions can manifest with a range of distinct clinical signs and symptoms.
• The specific phenotype observed in this patient adds to the spectrum of known chromosome 19 deletion effects.
• Polyotia is a rare but notable feature within the observed phenotype.

Implications:

• This case underscores the importance of considering chromosome 19 deletions in patients with developmental delays and specific dysmorphic features.
• Further research is needed to fully elucidate the genotype-phenotype correlations of chromosome 19 deletions.
• Reporting rare cases like this enhances the collective understanding of genetic disorders and their clinical presentations.