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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
Insights
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.
Abstract:
We report on an infant with multiple congenital anomalies and mosaic trisomy 8 [corrected]. Clinical findings are presented, and compared with those of the 24 cases previously reported. Some unusual characteristics found in this patient include macrocephaly, an extreme degree of palatal hypoplasia, and abnormally shaped long bones.