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An infant with double trisomy (48,XXX, + 18)
S Jaruratanasirikul1, U Jinorose
1Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Thailand.
American Journal of Medical Genetics
|January 15, 1994
Summary
This study details a rare case of double trisomy (48,XXX,+18) in an infant, presenting with typical trisomy 18 features. The infant survived to 12 months, offering insights into this complex genetic condition.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Double trisomy is a rare chromosomal abnormality involving the presence of an extra chromosome in two different cell lines or the presence of multiple extra chromosomes.
- Trisomy 18 (Edwards syndrome) is a genetic disorder caused by the presence of all or part of a third copy of chromosome 18.
Observation:
- A female infant presented with clinical features consistent with trisomy 18, including prominent occiput, microphthalmia, micrognathia, malformed ears, congenital heart defect, overlapping fingers, talipes equinovarus, and rockerbottom feet.
- The infant had an extra palmar crease on the right hand only.
- The patient survived to 12 months of age.
Findings:
- The infant exhibited a double trisomy karyotype of 48,XXX,+18.
- Clinical manifestations were compared to 10 previously reported cases of similar genetic conditions.
- The survival of the infant to 12 months provides valuable data on the phenotypic spectrum and potential outcomes.
Implications:
- This case expands the understanding of double trisomy 48,XXX,+18 and its phenotypic variability.
- The findings contribute to the clinical knowledge base for managing infants with complex chromosomal abnormalities.
- Further research into the genetic and clinical factors influencing survival in such cases is warranted.