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[16q+ partial trisomy in a 7-day-old surviving neonate]
Ceskoslovenska Pediatrie
|October 1, 1989
Summary
A child presented with complex malformations due to partial trisomy of chromosome 16 long arms. Family members were identified as carriers of a balanced 14/16 translocation.
Area of Science:
- Human Genetics
- Cytogenetics
- Medical Genetics
Background:
- Genetic disorders can lead to complex congenital malformations.
- Chromosomal abnormalities, such as translocations and aneuploidies, are significant causes of developmental abnormalities.
Observation:
- A proband exhibited a complex malformation phenotype.
- Karyotyping revealed partial trisomy for the long arms of chromosome 16 (16q).
Findings:
- The proband's father, his twin brother, and their mother were identified as carriers of a balanced translocation between chromosomes 14 and 16 (t(14;16)).
- This balanced translocation in the parents likely led to the unbalanced segregation resulting in the trisomy 16q in the proband.
Implications:
- This case highlights the importance of cytogenetic analysis in diagnosing complex malformations.
- Identifying balanced translocations in familial cases is crucial for genetic counseling and reproductive planning.
- Understanding chromosomal segregation patterns in translocation carriers can predict recurrence risks in offspring.