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Related Experiment Videos

Translocation Down syndrome.

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

  • 1Institute of Genetics, Osmania University, Begumpet, Hyderabad-500 016.

Indian Journal of Medical Sciences
|March 26, 2003
PubMed
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Cytogenetic analysis of 1021 Down syndrome (DS) cases identified translocations in 46 individuals, primarily t(14;21) and t(21;21). Younger maternal age was linked to translocation Down syndrome, aiding genetic counseling.

Area of Science:

  • Human Genetics
  • Medical Cytogenetics
  • Reproductive Medicine

Background:

  • Down syndrome (DS) is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
  • Translocation Down syndrome accounts for a subset of DS cases, involving the transfer of genetic material to another chromosome.
  • Understanding the cytogenetic basis and associated risk factors is crucial for genetic counseling and reproductive planning.

Purpose of the Study:

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

Main Methods:

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  • Cytogenetic analysis (karyotyping) was performed on 1021 individuals diagnosed with Down syndrome.
  • Translocation types, specifically Robertsonian translocations involving chromosome 21 (t(14;21), t(21;21)), were identified.
  • Parental ages and family histories were collected and analyzed in relation to translocation status.

Main Results:

  • Cytogenetic investigations revealed translocations in 46 out of 1021 Down syndrome cases (approximately 4.5%).
  • The most prevalent translocation types were t(14;21) and t(21;21).
  • A significant proportion of translocation DS cases (31/46) were born to mothers younger than 25 years, compared to pure trisomy 21 cases.

Conclusions:

  • Translocation is a significant cytogenetic finding in a subset of Down syndrome cases.
  • Younger maternal age is a notable risk factor associated with translocation Down syndrome.
  • Parental karyotyping, family history, and parental age are invaluable tools for providing accurate genetic counseling, prenatal diagnosis, and recurrence risk assessment.