Biomedical Science Letters (대한의생명과학회지)

The Korean Society for Biomedical Laboratory Sciences (대한의생명과학회)
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A Cytogenetic Analysis of Inversion as a Type of Structural Chromosome Aberration in Prenatal Diagnosis

  • Hwang, Si-Mok (Division of Research and Development, GenDix, Inc.) ;
  • Kwon, Kyoung-Hun (Division of Research and Development, GenDix, Inc.) ;
  • Jo, Yoon-Kyung (Department of Clinical Laboratory Science, Dongnam Health College) ;
  • Yoon, Kyung-Ah (Department of Clinical Pathology, Daejeon Health Sciences College)
  • Published : 2009.12.31
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Abstract

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

Keywords

References

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