A novel and complex chromosomal variation in a child with developmental delay: A case report

Area of Science:

• Genetics
• Human Biology
• Medical Science

Background:

• Chromosomal variations significantly impact phenotypes based on size and genomic location.
• Complex chromosomal rearrangements are rare but can lead to diverse clinical manifestations.
• This report details a previously undocumented complex chromosomal rearrangement.

Purpose of the Study:

• To present a novel case of complex chromosomal rearrangement.
• To describe the associated clinical phenotype and genetic findings.
• To contribute to the understanding of chromosomal abnormalities and their impact.

Main Methods:

• Karyotyping (G-banding) and copy number variation sequencing were performed.
• Detailed analysis of structural anomalies including ring chromosome 1, translocations, and deletions.
• Phenotypic evaluation included growth, developmental, and hormonal assessments.

Main Results:

• A male karyotype (46, XY) with multiple structural anomalies was identified: r(1)(p13q32), t(6;21)(q21;q22), der(14)t(1;14)(p13;p12), and der(15)t(1;15)(q32;p12).
• Copy number variation sequencing detected deletions: del(1)(q31.3q32.1), del(1)(q32.1), and del(6)(q14.1).
• The patient presented with short stature, growth delay, sinus tachycardia, arrhythmia, hematuria, developmental delay, intellectual disability, and reduced growth hormone levels.

Conclusions:

• This case represents a novel complex chromosomal rearrangement involving five chromosomes.
• The findings highlight the intricate relationship between chromosomal abnormalities and phenotypic expression.
• This documentation serves as a foundation for future research on related genetic disorders.