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De novo partial trisomy distal 4q: a case report
Genetic Counseling (Geneva, Switzerland)
|March 26, 2015
Summary
This study details a rare case of de novo distal partial trisomy 4q syndrome in an infant girl. The patient presented with unique chronic cholecystitis and congenital hypothyroidism, contributing new insights into this genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Distal partial trisomy 4q syndrome is a rare chromosomal abnormality.
- Genetic disorders can manifest with a wide spectrum of congenital anomalies.
- Early identification and characterization of rare syndromes are crucial for understanding disease mechanisms.
Observation:
- A 10-month-old female infant presented with dysmorphic facial features, neuromotor retardation, congenital hypothyroidism, atrial septal defect, and renal anomalies.
- Chromosome analysis revealed a karyotype of 46, XX, dup(4) (q21q35), indicating de novo distal partial trisomy 4q.
- FISH analysis confirmed the duplication of the 4q region.
Findings:
- This case is the first reported instance of chronic cholecystitis in a patient with distal partial trisomy 4q syndrome.
- The patient also exhibited hypothyroidism and bilateral membranous choanal atresia, adding to the phenotypic variability of this syndrome.
- No chromosomal anomalies were detected in the healthy parents, confirming the de novo nature of the mutation.
Implications:
- This case expands the known clinical spectrum of distal partial trisomy 4q syndrome.
- The association with chronic cholecystitis suggests a potential genotype-phenotype correlation that warrants further investigation.
- Understanding these rare genetic conditions aids in improved diagnosis, management, and genetic counseling.
