Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome |
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| Authors: | Frans J Los MD PhD Diane Van Opstal Martin P Schol Johannes L J Gaillard Helen Brandenburg Ans M W Van Den Ouweland Peter A In 'T Veld |
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| Institution: | 1. Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands;2. Department of Pathology, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands;3. Department of Obstetrics and Gynaecology, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands |
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| Abstract: | A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome. |
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| Keywords: | tetrasomy 12p trisomy 12p mosaicism amniotic fluid cells Pallister–Killian syndrome |
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