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Trisomy 8: an additional case with unique manifestations [correction]
M I de Michelena1, R Sánchez, P Muñoz
1Department of Morphologic Sciences, Universidad Peruana Cayetano Heredia, Lima, Perú.
American Journal of Medical Genetics
|July 1, 1992
Summary
This study details a case of mosaic trisomy 8 in an infant with multiple congenital anomalies. Unique features observed were macrocephaly, severe palatal hypoplasia, and abnormal long bone development.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Mosaic trisomy 8 is a rare chromosomal abnormality.
- Congenital anomalies present significant challenges in infant care.
Observation:
- A case report of an infant diagnosed with mosaic trisomy 8.
- Detailed clinical findings and phenotypic presentation are described.
Findings:
- The infant exhibited multiple congenital anomalies.
- Unusual characteristics included macrocephaly, extreme palatal hypoplasia, and abnormal long bone morphology.
- Comparison with 24 previously reported cases of mosaic trisomy 8.
Implications:
- Adds to the understanding of mosaic trisomy 8 phenotypes.
- Highlights the variability and specific manifestations of this condition.
- Informs genetic counseling and clinical management strategies for affected infants.