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Partial 10q trisomy with partial 12q monosomy

N Mitsufuji1, S Tokuda, H Nakanoin

  • 1Department of Pediatrics, Kyoto First Red Cross Hospital, Japan.

Archives of Disease in Childhood
|March 13, 1998
PubMed
Summary
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A novel chromosomal abnormality, partial trisomy 10q with partial monosomy 12q, was identified. This genetic condition arose from a previously undescribed paternal reciprocal translocation between chromosomes 10 and 12.

Area of Science:

  • Human genetics
  • Cytogenetics
  • Reproductive genetics

Background:

  • Reciprocal translocations are rearrangements between non-homologous chromosomes.
  • These rearrangements can lead to unbalanced chromosomal products during meiosis, resulting in genetic disorders.

Observation:

  • A case presenting with partial trisomy of the long arm of chromosome 10 (10q) and partial monosomy of the long arm of chromosome 12 (12q) is described.
  • The chromosomal abnormality was traced to a balanced, reciprocal translocation inherited from the father.

Findings:

  • The specific paternal balanced, reciprocal translocation involving chromosomes 10 and 12 is novel and has not been previously documented in scientific literature.
  • This translocation resulted in an unbalanced chromosomal state in the offspring, leading to partial trisomy 10q and partial monosomy 12q.

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Implications:

  • This case expands the known spectrum of chromosomal abnormalities resulting from reciprocal translocations.
  • Understanding such novel rearrangements is crucial for accurate genetic counseling and diagnosis in families with recurrent miscarriages or affected offspring.
  • Further research may elucidate the specific phenotypic consequences associated with this unique chromosomal imbalance.