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Phenotypic Features in a New 12q21 Deletion and Its Association With Cardiofaciocutaneous Syndrome

Indushree Manjunath¹, Arturo Gamez², Anitha Jagadish³

¹Medical Intern, Sapthagiri Institute of Medical Sciences and Research Center, Bengaluru, IND.

|June 10, 2024

Insights

Diagnosing developmental delay in infants is challenging. This case highlights a rare interstitial deletion on chromosome 12q21, potentially linked to CFC syndrome, advancing understanding of 12q21 deletion syndrome.

Area of Science:

Genetics
Pediatrics
Medical Diagnostics

Background:

Diagnosing developmental delay, cognitive impairments, and congenital physical abnormalities in children presents significant challenges due to numerous potential causes.
Chromosomal disorders are particularly difficult to diagnose and can have severe outcomes for infants.
Chromosomal microarray analysis has improved the identification of chromosomal deletions, aiding diagnosis.

Observation:

This report details a rare case of interstitial deletion in the long arm of chromosome 12 (12q21 region).
Only 14 patients with deletions in this region, including 12q21, have been previously documented.
The primary features observed in these patients include cardiac, renal, ocular, central nervous system (CNS), and developmental abnormalities.

Findings:

The study presents a case of a one-year-seven-month-old boy with a novel, de novo deletion in the 12q21.1q21.31 region.
Shared clinical features among previously reported cases suggest a potential microdeletion syndrome.
The findings propose that deletions within the 12q21 region may be associated with CFC syndrome.

Implications:

This case contributes valuable data to the understanding of 12q21 deletion syndrome.
Identifying specific deletions like the one in 12q21.1q21.31 can refine diagnostic approaches for complex pediatric conditions.
Further research into the 12q21 region may elucidate its role in developmental disorders and associated syndromes like CFC syndrome.

Read full analysis

Abstract:

Arriving at a diagnosis in children with developmental delay, cognitive impairments, and multiple physical abnormalities at birth can be very taxing due to many differential diagnoses and etiologies. Of the plethora of conditions that are seen among infants, chromosomal disorders, in particular, present with challenges in diagnosis and devastating consequences. In recent times, the advent of chromosomal microarray techniques has made it possible to easily identify chromosomal deletions and arrive at a diagnosis. This case comprises one of the very few cases reported in interstitial deletions of the long arm of chromosome 12. To date, only 14 patients with deletions, including the 12q21 region, have been reported. The main features are cardiac, renal, ocular, CNS, and developmental abnormalities. The shared features of all these cases might suggest a possible microdeletion syndrome. In this case report, we propose through descriptive analysis that a deletion of genes in the 12q21 region could lead to CFC syndrome. This work contributes to our understanding of the 12q21 deletion syndrome through the case discussion of a one-year-seven-month-old boy with a de novo deletion at 12q21.1q21.31 region that has never been reported previously.

Keywords:

12q21 deletion 12q21 syndrome cardiofaciocutaneous syndrome genetic pediatric

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