New Discovery of a Rare Robertsonian Translocation (15;22) – A Case Report from India

Introduction

Robertsonian translocations are among the most common structural chromosomal rearrangements in humans, but the rob(15;22) translocation remains an exceptionally rare occurrence, accounting for just 0.6% of all Robertsonian translocations. This case report focuses on a 3-year-6-month-old male child diagnosed with rob(15;22) in association with trisomy 21, an occurrence not previously documented.

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Case Summary

The child, born after a full-term pregnancy, exhibited developmental delays, generalized hypotonia, dysmorphic facial features, and intellectual impairments. A chromosomal analysis confirmed the presence of rob(15;22), inherited from his mother, and trisomy 21 as a de novo incidence. The phenotype included:

• Generalized hypotonia
• Delayed developmental milestones
• Simian crease
• Dysmorphic facies
• Abnormal laughter patterns
• Atrioventricular septal defect

Further cytogenetic analysis of the parents revealed a normal karyotype in the father, while the mother carried a balanced rob(15;22) translocation.

Understanding Robertsonian Translocations

Robertsonian translocation occurs when two acrocentric chromosomes merge at their centric ends, reducing the chromosome count to 45 while preserving genetic content. Carriers of such translocations are typically phenotypically normal but face risks such as:

• Infertility
• Miscarriage
• Offspring with chromosomal imbalances, such as Down syndrome

According to the American College of Medical Genetics and Genomics (ACMG), genetic counseling is crucial for individuals carrying Robertsonian translocations to assess reproductive risks and explore options like preimplantation genetic diagnosis (PGD).

Implications for Genetic Counseling

Given the child’s unique chromosomal profile, genetic counseling was recommended to the parents. Prenatal genetic screening and karyotyping before planning future pregnancies can help identify potential risks early. Studies such as Whole Exome Sequencing (WES) and Fluorescence In Situ Hybridization (FISH) could further refine our understanding of the breakpoints involved in such rare translocations.

Read the Full Study

Access the complete case report at https://doi.org/10.29328/journal.acr.1001092.

Conclusion

This case highlights the importance of chromosomal studies in diagnosing rare genetic disorders. Carriers of Robertsonian translocations should consider genetic counseling to mitigate reproductive risks. Further research is necessary to assess the pathogenic potential of rob(15;22) and its association with trisomy 21.

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