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Trisomy 13 mosaic presenting as cleft lip and palate
Human Heredity
|January 1, 1976
Summary
Mosaic trisomy 13 can present as newborn cleft lip and palate. Further genetic testing is crucial for any additional anomalies in infants with suspected trisomy 13 syndrome.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Mosaic trisomy 13 is a chromosomal abnormality where some cells have an extra copy of chromosome 13.
- Cleft lip and palate are common congenital conditions affecting newborns.
Observation:
- A case report describes a newborn initially presenting with cleft lip and palate.
- The infant later showed failure to gain weight and great vessel malformation at 6 weeks old.
Findings:
- Cytogenetic studies on leukocyte culture confirmed mosaic trisomy 13 (90% normal cells, 10% trisomic cells).
- This diagnosis highlights that mosaic trisomy 13 can present atypically, mimicking other conditions.
Implications:
- Genetic evaluation is recommended for newborns with cleft lip/palate and other congenital anomalies.
- Early diagnosis of mosaic trisomy 13 is vital for appropriate clinical management and genetic counseling.