Complex mosaicism associated with trisomy 9 |
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| Authors: | J S Smoleniec T Davies P Lunt P J Berry Dr D James |
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| Institution: | 1. Division of Fetal Medicine, University Department of Obstetrics, Bristol Maternity Hospital, Southwell Street, Bristol BS2 8EG, U.K.;2. Department of Clinical Genetics, Bristol Maternity Hospital, Southwell Street, Bristol BS2 8EG, U.K.;3. University Department of Paediatric Pathology, Bristol Maternity Hospital, Southwell Street, Bristol BS2 8EG, U.K.;4. Southwest Regional Cytogenetics Centre, Southmead Hospital, Westbury on Trym, Bristol BS10 5NB, U.K. |
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| Abstract: | Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus with a total of three karyotypically different cell lines (46,XXrpar; 47,XX, + 9; and 47,XX, + del (9) (q11) in different tissues (placenta, lung, gonad, and skin). |
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| Keywords: | Placental biopsy Mosaicism Trisomy 9 |
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