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Technical and biological aspects of pseudomosaicism and mosaicism
Author(s) -
Moller Päl,
Ormerod Eli
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb02787.x
Subject(s) - aneuploidy , amniotic fluid , biology , andrology , amniocentesis , genetics , fetus , prenatal diagnosis , pregnancy , medicine , chromosome , gene
In 471 amniotic fluid cell cultures, single abnormal cells were found to be randomly distributed. The expected number of pseudomosaicisms for aneuploidy due to randomly distributed cells was 3.9, and the observed number was 4. Expected number of mosaicism for aneuploidy was 0.6, and none was observed. The findings indicated that pseudomosaicisms as well as mosaicisms may be diagnosed from randomly distributed single abnormal cells. The probability of erroneously confirming mosaicism increased with the number of cells analysed in the second culture.