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Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery
Authors:C Herens  G Pierquin  A Verloes  J P Schaaps  J Frederic
Institution:Human Genetic Department and Obstetric Department, Liège State University, Belgium
Abstract:A 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40-year-old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone.
Keywords:Marker chromosome  Mosaicism  Prenatal diagnosis  Trisomy 9
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