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Mosaic trisomy 16 in a live newborn infant
N J Gilbertson1, J W Taylor, I Z Kovar
1Department of Paediatrics, Charing Cross Hospital, London.
Archives of Disease in Childhood
|April 1, 1990
Summary
Mosaic trisomy 16, a condition usually incompatible with life, was observed in a male infant who survived for 11 weeks. This case provides the first cytogenetically banded confirmation of mosaic trisomy 16 survival.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Trisomy 16 is a chromosomal abnormality typically associated with non-survival in utero.
- Existing literature suggests trisomy 16 is incompatible with fetal survival, making live births exceedingly rare.
Observation:
- A male infant diagnosed with mosaic trisomy 16 survived for 11 weeks postnatally.
- Chromosome analysis was performed on skin fibroblasts obtained during life and post-mortem.
Findings:
- Cytogenetic banding confirmed the presence of mosaic trisomy 16 in the reported case.
- This represents the first documented instance of mosaic trisomy 16 survival confirmed by cytogenetic banding techniques.
Implications:
- This case challenges the absolute notion of trisomy 16 being incompatible with fetal survival.
- Further research into the mechanisms of mosaicism in trisomy 16 may offer insights into developmental tolerances and genetic resilience.