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Translocation Down syndrome.

A Jyothy1, G N Mallikarjuna Rao, K S D Kumar

  • 1Inst. of Immunohematology, Mumbai.

Indian Journal of Medical Sciences
|January 2, 2003
PubMed
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Cytogenetic analysis of 1021 Down syndrome cases identified 46 translocations, primarily t(14;21) and t(21;21). Translocation Down syndrome cases were more common in mothers under 25, aiding genetic counseling and risk assessment.

Area of Science:

  • Genetics
  • Human Biology
  • Medical Science

Background:

  • Down syndrome (DS) is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
  • Cytogenetic investigations are crucial for diagnosing and understanding the genetic basis of Down syndrome.
  • Translocation Down syndrome is a form of the disorder where an extra part of chromosome 21 is attached to another chromosome.

Purpose of the Study:

  • To investigate the frequency and types of chromosomal translocations in a cohort of Down syndrome cases.
  • To compare the parental age in translocation Down syndrome cases versus pure trisomy 21 cases.
  • To evaluate the utility of parental karyotypes, family history, and parental age in genetic counseling for Down syndrome.

Main Methods:

  • Cytogenetic analysis (karyotyping) was performed on 1021 individuals diagnosed with Down syndrome.

Related Experiment Videos

  • Translocation types, specifically t(14;21) and t(21;21), were identified and categorized.
  • Parental ages were recorded and compared between translocation DS cases and pure trisomy 21 cases.

    • Main Results:

    • Out of 1021 Down syndrome cases, 46 (approximately 4.5%) exhibited chromosomal translocations.
    • The most frequent translocation types observed were t(14;21) and t(21;21).
    • A significant proportion of translocation Down syndrome cases (31 out of 46) were born to mothers younger than 25 years, contrasting with pure trisomy 21 cases.

    Conclusions:

    • Translocation is a notable cause of Down syndrome, with specific types like t(14;21) and t(21;21) being most common.
    • Younger maternal age is associated with a higher incidence of translocation Down syndrome.
    • Parental karyotyping, family history, and parental age are invaluable tools for providing accurate genetic counseling, enabling prenatal diagnosis, and estimating recurrence risks for future pregnancies.