12q interstitial deletion with bilateral cleft lip and palate: case report and literature review

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Interstitial deletions of chromosome 12q are rare genetic events.
• Understanding genotype-phenotype correlations in chromosomal abnormalities is crucial for diagnosis and treatment.
• Previous reports of 12q deletions have shown diverse clinical presentations, hindering clear correlations.

Observation:

• A case study of a Japanese girl with an interstitial deletion of chromosome 12q15-q21.2 is presented.
• The patient exhibited multiple congenital anomalies, including bilateral cleft lip and palate (BCLP), intrauterine growth retardation, and severe psychomotor developmental delay.
• This represents the third reported case with a similar deletion in the 12q region.

Findings:

• Two of the three reported cases with overlapping 12q deletions, including the current case, present with BCLP.
• This observation strengthens the potential association between deletions in the 12q15-q21.2 region and the development of BCLP.
• The distinct clinical features in previously reported cases highlight the complexity of 12q deletion syndromes.

Implications:

• The findings suggest a specific locus within 12q15-q21.2 may play a role in facial development, specifically palate formation.
• Further research into this chromosomal region could identify critical genes involved in BCLP etiology.
• This case contributes to refining the understanding of genotype-phenotype correlations in 12q deletion syndromes, aiding in genetic counseling and clinical management.