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Abnormal karyotype in the chorion,not confirmed in a subsequently aborted fetus
Authors:Dr A Breed  A Mantingh  L Govaerts  A Boogert  G Anders  R Laurini
Institution:1. Department of Gynaecology and Obstetrics, University Hospital Groningen, The Netherlands;2. Department of Human Genetics, State University of Groningen, The Netherlands;3. Department of Pathology, State University of Groningen, The Netherlands
Abstract:An abnormal fetal karyotype, containing a del 16(q21-qter) as an extra chromosome, was diagnosed in all 14 metaphases examined in a sample of chorionic villous biopsy material. After elective abortion a mosaicism for this cell-line together with a normal one was detected in the chorionic tissue. Fibroblast cultures from several fetal skin biopsies all revealed a normal karyotype.
Keywords:Chorionic villous biopsy  Chromosomal mosaicism  False positive diagnosis
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