When Cri du chat syndrome meets Edwards syndrome

Area of Science:

• Genetics
• Clinical Medicine
• Human Pathology

Background:

• 5p deletion is known to cause Cri du chat syndrome, and 18q duplication causes Edwards syndrome.
• Both conditions are rare genetic disorders leading to physical and mental impairments.
• The combined effect of these two distinct chromosomal aberrations in a single patient was previously unknown.

Observation:

• A two-year-old female patient presented with both 5p partial monosomy and 18q partial trisomy.
• Chromosome microarray analysis and fluorescence in situ hybridization confirmed the chromosomal imbalances.
• The patient exhibited severe clinical phenotypes associated with the 5p deletion.

Findings:

• This case represents the first documented instance of a patient with concurrent 5p partial monosomy and 18q partial trisomy.
• Severe clinical phenotypes linked to the 5p deletion (5p15.33–p13.3) were observed.
• The effect of the 18q22.3–q23 duplication on the patient's phenotype appeared minimal.

Implications:

• This case highlights the significant impact of 5p deletions on clinical presentation.
• The findings contribute to understanding the genotype-phenotype correlation for chromosomal abnormalities.
• Further research is needed to fully elucidate the role of 18q duplications and refine critical region mapping on chromosome 18.