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Paracentric inversion 14.

K Miller1, G Raabe, C Schlesinger

  • 1Department of Human Genetics, Medizinische Hochschule Hannover, Federal Republic of Germany.

Annales De Genetique
|January 1, 1990
PubMed
Summary
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A familial paracentric inversion of chromosome 14 was identified in a woman experiencing recurrent miscarriages. This genetic rearrangement, inv(14)(q24.1q32.1), highlights risks associated with chromosomal abnormalities.

Area of Science:

  • Human Genetics
  • Cytogenetics
  • Reproductive Biology

Background:

  • Recurrent pregnancy loss is a significant concern in reproductive medicine.
  • Chromosomal abnormalities are a known cause of recurrent miscarriages.
  • Paracentric inversions, while often asymptomatic, can lead to reproductive issues.

Observation:

  • A novel familial case of paracentric inversion of chromosome 14, specifically inv(14)(q24.1q32.1), was identified.
  • The case was ascertained through a female carrier presenting with multiple spontaneous abortions.
  • This represents a new instance of this specific chromosomal rearrangement.

Findings:

  • A literature review identified 14 previously recorded cases of paracentric inversion 14.
  • The breakpoints in these inversions allow for classification into two main groups.

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  • The identified inv(14)(q24.1q32.1) fits within the known spectrum of chromosome 14 inversions.

    • Implications:

    • This case underscores the importance of cytogenetic analysis in evaluating recurrent pregnancy loss.
    • Understanding the breakpoints of chromosome 14 inversions is crucial for genetic counseling.
    • Further research into the reproductive risks associated with specific paracentric inversions is warranted.