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Clinical experience with balanced reciprocal translocations

M Prieto-Carrasquero1, A Rojas-Atencio, S Gonzalez

  • 1Medical Genetic Unit, Universidad del Zulia, Maracaibo, Venezuela.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1995
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Summary
This summary is machine-generated.

Balanced reciprocal translocations (BRT) were found in 0.34% of 4,335 karyotypes. These genetic rearrangements can impact patient phenotypes, especially in cases of malformation syndromes/mental retardation, underscoring the need for genetic counseling.

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Area of Science:

  • Human Genetics
  • Clinical Cytogenetics

Background:

  • Balanced reciprocal translocations (BRT) are chromosomal abnormalities that can be associated with adverse reproductive outcomes and developmental disorders.
  • Understanding the prevalence and clinical significance of BRT is crucial for genetic counseling and patient management.

Purpose of the Study:

  • To evaluate the occurrence and clinical relevance of balanced reciprocal translocations (BRT) in patients with malformation syndromes/mental retardation (MS/MR) and in couples experiencing reproductive failure.
  • To analyze the origin and phenotypic impact of identified BRT cases.

Main Methods:

  • Retrospective review of 4,335 karyotypes performed between January 1971 and December 1994 at the Genetics Unit of the Universidad del Zulia.
  • Identification and analysis of cases with balanced reciprocal translocations (BRT), categorizing them by indication for chromosome analysis and origin (familial, de novo, unknown).

Main Results:

  • Fifteen cases (0.34%) of BRT were identified among the reviewed karyotypes.
  • The primary indications for karyotype analysis were malformation syndromes/mental retardation (66.6%) and reproductive failure (20%).
  • BRT were of familial origin in 40% of cases, de novo in 20%, and unknown in 40%.

Conclusions:

  • Balanced reciprocal translocations (BRT) can influence the phenotype, particularly when associated with malformation syndromes/mental retardation.
  • Genetic counseling is indicated for individuals at risk of being carriers of BRT due to their potential clinical impact.