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Related Experiment Videos

Translocation Down's syndrome.

P Lakshminarayana1

  • 1Dr. A.L. Mudaliar Post Graduate Institute of Basic Medical Sciences, Taramani, Madras, Tamil Nadu.

Indian Journal of Pediatrics
|March 1, 1990
PubMed
Summary
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Three percent of Down syndrome cases result from translocations, with specific patterns observed in families. Family history is crucial for genetic counseling in translocation cases.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Research

Background:

  • Down syndrome is a genetic disorder caused by trisomy 21.
  • Translocations account for a subset of Down syndrome cases, impacting inheritance patterns.
  • Understanding translocation types is vital for genetic counseling and recurrence risk assessment.

Purpose of the Study:

  • To investigate the frequency and types of translocations in a cohort of Down syndrome children.
  • To analyze family history patterns associated with translocation Down syndrome.
  • To highlight the importance of family history in genetic counseling for translocation cases.

Main Methods:

  • Karyotyping of 500 children diagnosed with Down syndrome.
  • Classification of translocations into specific types (e.g., 21;21, 14;21).

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  • Analysis of inheritance patterns (de novo vs. inherited) and family histories.

    • Main Results:

    • 15% of Down syndrome cases (3% of the total cohort) were attributed to translocations.
    • Specific translocation types identified: 10 cases of 21;21 and five of 14;21.
    • Nine translocations were de novo, while six were inherited; characteristic family histories were noted.

    Conclusions:

    • Translocation Down syndrome exhibits distinct inheritance patterns and family histories.
    • Family history, including parental age and recurrence, is a significant indicator in translocation cases.
    • Genetic counseling for Down syndrome should carefully consider translocation status and family history.