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Partial trisomy 13q inherited from balanced translocation (5;13) (p14;q13)
Journal De Genetique Humaine
|December 1, 1978
Summary
A girl with multiple congenital malformations has an abnormal karyotype resulting from paternal translocation t(5;13). This genetic condition causes partial monosomy for chromosome 5 and partial trisomy for chromosome 13.
Area of Science:
- Human Genetics
- Cytogenetics
- Medical Genetics
Background:
- Congenital malformations can arise from chromosomal abnormalities.
- Reciprocal translocations are a common source of unbalanced chromosomal rearrangements in offspring.
Observation:
- A female infant presented with multiple congenital malformations.
- Karyotype analysis revealed an abnormal chromosomal complement: 46,XX,t(5;13).
- The proband's father was identified as a carrier of a balanced reciprocal translocation: 46,XY,t(5;13).
Findings:
- The patient is monosomic for the distal short arm of chromosome 5 (5pter to 5p14) and trisomic for the long arm of chromosome 13 (13q13 to 13qter).
- The abnormal karyotype resulted from adjacent type 1 malsegregation during meiosis of the paternal quadrivalent.
- Phenotypic features align with known maps of chromosome 5 and 13 rearrangements, with the addition of craniosynostosis and near-normal psychomotor development.
Implications:
- This case refines the understanding of genotype-phenotype correlations for rearrangements involving chromosomes 5 and 13.
- It highlights the importance of parental karyotyping in cases of unexplained congenital anomalies.
- The findings contribute to the clinical characterization of complex chromosomal imbalances.