Biomedical Science Letters (대한의생명과학회지)

The Korean Society for Biomedical Laboratory Sciences (대한의생명과학회)
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A Study on Chromosomal Mosaicism Detected through Cytogenetic Analysis

  • Hwang, Si-Mok (Division of Research and Development, GenDix, Inc.) ;
  • Kwon, Kyoung-Hun (Division of Research and Development, GenDix, Inc.) ;
  • Yoon, Kyung-Ah (Department of Clinical Pathology, Daejeon Health Sciences College)
  • Received : 2011.02.17
  • Accepted : 2011.03.30
  • Published : 2011.06.30
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Abstract

Mosaicism is the presence of two or more chromosomally distinct cell lines, each seen in two or more cells. Chromosomal mosaicism presents one of the most difficult problems in prenatal cytogenetic diagnosis, requiring the differentiation of true mosaicism from pseudomosaicism. To overcome associated problems we investigated 24 cases (amniotic fluid 13 cases, abortus tissue 3 cases, peripheral blood 8 cases) in which mosaicism has been found in cytogenetic analysis. 5 cases (38.5%) of 13 amniotic fluid cells in which mosaicisms showed single cell pseudomosaicism. Chromosomal true mosaicism is found in about 0.28% (8/2,826) of amniotic fluid cell cultures. The 24 cases involved 12 cases (50%) with sex chromosomal abnormalities, 7 cases (29.2%) with autosomal structural defects, 3 cases (12.5%) with autosomal abnormalities, 2 cases (8.3%) with a supernumerary marker. Mosaicism detected in amniotic fluid may represent the true mosaicism or may pseudomosaicism. If the same chromosome abnormality is seen in more than one cell and in two different cultures, it is considered a true mosaicism, whereas single-cell abnormalities from a single culture are regarded as pseudomosaicism. In this study, we describe a mosaicism in chromosome analysis, its diagnostic problems and clinical significance.

Keywords

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