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PRENATAL DETECTION OF TWO DIFFERENT MONOSOMIC CELL LINES BY CHORIONIC VILLUS SAMPLING
Author(s) -
HSU TEYAO,
LIOU JUIDER,
COPEL JOSHUA A.,
MAHONEY MAURICE J.,
BREG W. ROY,
YANGFENG TERESA L.
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199602)16:2<169::aid-pd819>3.0.co;2-t
Subject(s) - chorionic villus sampling , in utero , monosomy , chorionic villi , aneuploidy , prenatal diagnosis , cystic hygroma , trisomy , fetus , andrology , pregnancy , biology , karyotype , gynecology , obstetrics , medicine , genetics , chromosome , gene
We present a prenatal case of mosaicism with at least two monosomy cell lines: one with monosomy 21 (45,XY,−21) and one missing the Y (45,X) and a possible third 46,XY in chorionic villus cell culture. Cytogenetic studies were initiated following the ultrasound detection at 11 weeks of a large cystic hygroma and in utero growth retardation. Spontaneous fetal demise occurred at 12 weeks and the pregnancy was terminated. To our knowledge, this is the first report of two different monosomic cell lines found in chorionic villus cells.