Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample |
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Authors: | Harriet von Koskull PhD Annukka Ritvanen Pirkko Ämmälä Nina Gahmberg Riitta Salonen |
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Institution: | Helsinki University Central Hospital, Departments I and II of Obstetrics and Gynaecology, Laboratory of Prenatal Genetics, Haartmaninkatu 2, SF-00290 Helsinki, Finland |
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Abstract: | Trisomy 12 mosaicism (44 per cent) was detected prenatally in cultured amniocytes. A cordocentesis was performed to confirm the result. Only normal cells were found in the fetal blood sample. The fetus was estimated to be at a low risk of having a chromosomal abnormality and the pregnancy continued. Eight days after birth, a congenital heart defect was detected in the child. Several dysmorphic features were also evident. Further karyotyping of different tissues revealed normal blood and urinary cells but trisomic cells in the placenta (100 per cent) and in skin fibroblasts (25 per cent). The child died at 5 weeks of age. In this case, the fetal blood sample failed to reveal the real chromosome constitution of the fetus. |
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Keywords: | Prenatal diagnosis Chromosome mosaicism Trisomy 12 |
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