5p14 deletion associated with microcephaly and seizures

Area of Science:

• Genetics
• Molecular Biology
• Clinical Medicine

Background:

• Interstitial deletions of chromosome 5p14 can occur in families.
• Previous studies have described multigenerational families with 5p14 deletions and no apparent clinical phenotype.

Observation:

• A father and son presented with an interstitial deletion of 5p14.
• The father was phenotypically and mentally normal.
• The son exhibited significant clinical involvement, including microcephaly, seizures, and global developmental delay.

Findings:

• Fluorescence in situ hybridisation (FISH) confirmed the 5p14 deletion in both individuals.
• The deletion size in the son was smaller than previously reported deletions in unaffected individuals.
• This case demonstrates variable expressivity associated with 5p14 deletions.

Implications:

• The size and specific breakpoints of 5p14 deletions may influence clinical presentation.
• Genetic testing and counseling are crucial for families with chromosomal abnormalities.
• Further research is needed to understand the genotype-phenotype correlations in 5p14 deletions.