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Properties and significance of a small marker chromosome in amniotic fluid cells
Author(s) -
Neri Giovanni,
Malvezzi DonatellaCagiano,
Serra Angelo,
Bova Renato,
Pelino Alessandro,
Maugiatti Lucia
Publication year - 1980
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.1399-0004.1980.tb00882.x
Subject(s) - marker chromosome , small supernumerary marker chromosome , chromosome , amniotic fluid , biology , supernumerary , offspring , centromere , genetics , genetic marker , karyotype , pregnancy , fetus , anatomy , gene
We report the presence of a small supernumerary metacentric chromosome in an amniotic fluid cell culture. The extra chromosome was inherited from the mosaic mother, and was characterized by the presence of four satellite regions, two on each side of the centromere. The pregnancy proceeded to term, and our findings were confirmed in the clinically normal offspring. The problems posed by the presence of the marker chromosome, in terms of both cytogenetic diagnosis and genetic counseling, are discussed in the light of similar cases from the literature.