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Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.
Mary J Seller1, Claudine Fear, Ajith Kumar
1Department Medical and Molecular Genetics, The Guy's, King's and St Thomas' Hospitals School of Medicine, King's College London Cytogenetics Department, The Genetics Centre, Guy's Hospital, London Clinical Genetics Department, The Genetics Centre, Guy's Hospital, London.
Clinical Dysmorphology
|June 15, 2004
Summary
Full trisomy 16, a common aneuploidy, typically results in early pregnancy loss. This rare case highlights a distinct surviving trisomy 16 phenotype with multiple congenital anomalies.
Area of Science:
- Medical Genetics
- Developmental Biology
- Fetal Medicine
Background:
- Trisomy 16 is a common chromosomal aneuploidy in human conceptions.
- Most trisomy 16 cases are not viable beyond early post-implantation development.
Observation:
- A rare case of an 18-week fetus with full trisomy 16 was identified.
- This fetus exhibited multiple, severe system abnormalities.
Findings:
- The fetus presented with a characteristic 'surviving' trisomy 16 phenotype.
- Key features included absent hemidiaphragm, pulmonary hypoplasia, cardiac defects, cystic kidneys, and craniofacial anomalies.
Implications:
- This case expands the understanding of trisomy 16 viability and associated phenotypes.
- Further research into the genetic and developmental mechanisms underlying this surviving trisomy 16 is warranted.