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Trisomy 16q arising from a maternal 15p;16q translocation
Journal of Medical Genetics
|August 1, 1979
Summary
Trisomy 16q, a condition where an extra copy of chromosome 16q is present, led to severe malformations in an infant. This genetic abnormality, identified via karyotyping, resulted in the infant's death shortly after birth.
Area of Science:
- Genetics
- Human Chromosome Studies
- Pediatric Pathology
Background:
- Aneuploidy, specifically trisomy, can lead to significant developmental abnormalities.
- Chromosome 16 plays a crucial role in fetal development.
Observation:
- A malformed infant presented with trisomy 16q and died at 12 days of age.
- The infant's karyotype revealed 46,XX,der(15)t(15;16)(p11;q11)mat.
- A balanced translocation was identified in the infant's mother.
Findings:
- The infant's karyotype indicated a complex rearrangement involving chromosome 16.
- Maternal balanced translocation was the likely source of the infant's chromosomal abnormality.
Implications:
- This case highlights the severe consequences of trisomy 16q in live-born infants.
- Understanding chromosome 16 aneuploidy is vital for genetic counseling and prenatal diagnosis.
- Further research into the effects of chromosome 16 rearrangements is warranted.