J Clin Pathol Qual Control.  1999 Dec;21(2):389-397.

Cytogenetic Results from 620 Cases of Peripheral Blood Specimen; Special Emphasis on Single Cell Pseudomosaicism

• Lee SR
• Shin MK
• Baik CS
• Lee KH
• Cho YS

Abstract

BACKGROUND: Pseudomosaicism resulting from cultural artifact or mitotic error has been well studied in amniocyte culture or chorionic villus sampling (CVS). But the frequencies and patterns of pseudomosaicism in peripheral lymphocyte culture were not well documented.
METHODS
We investigated the frequencies and patterns of chromosomal aberration and single cell pseudomosaicism (SCPM) in 620 cases of peripheral lymphocyte cultures.
RESULTS
The frequency of chromosomal aberration was 13.7% (85/620) and mosaic state was 12.9% 911/85). Among the 85 cases with chromosomal aberrations, the frequency of numerical aberration was 64.7% (55/85) and higher than that of structural aberration (31%(24/85)) and sex inconsistency case was 7.1% (6/85). The frequency of SCPM was 4.7% (29/620) and most cases of SCPM were found in repetitious or habitual abortion patients. Among 29 cases with SCPM, structural aberration (82.8%) was more frequent than that of numerical aberration (17.2%) and balanced structural aberration was more frequent than that of unbalanced. Chromosome X, 1, 7 and 14 were frequently involved in SCPM and reciprocal translocation between chromosome 7 with chromosome 14 was commonly found.
CONCLUSIONS
Clinical relevance of SCPM in peripheral lymphocyte culture and its high frequencies in patients with the history of habitual or repetitious abortion might remains to be more investigated.

MeSH Terms

Abortion, Habitual
Artifacts
Chorionic Villi Sampling
Chromosome Aberrations
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 7
Cytogenetics*
Female
Humans
Lymphocytes
Pregnancy