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Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues
Author(s) -
Swisshelm K.,
Rodriguez M. L.,
Luthy D.,
Salk D.,
Norwood T.
Publication year - 1981
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.1399-0004.1981.tb01033.x
Subject(s) - trisomy , karyotype , fetus , metaphase , amniotic fluid , biology , aneuploidy , chromosome , andrology , genetics , pregnancy , prenatal diagnosis , microbiology and biotechnology , pathology , medicine , gene
An aneuploid karyotype with an extra submetacentric C‐group chromosome was observed in all metaphase cells in 5 of 24 primary amniotic fluid cell clones and in admixture with normal cells in two additional clones. Trisomy 8 was demonstrated by R‐banding. The parents elected to terminate the pregnancy. Successful cultures were initiated from nine fetal tissues and aneuploid cells were observed in cultures derived from two separate sites in the skin.