Publication: Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm
Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm
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Schinzel, A., Schmid, W., & Mürset, G. (1974). Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm. Human Genetics, 22(4), 287–298. https://doi.org/10.1007/bf00295488
Abstract
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Abstract
Three cases with different forms of incomplete trisomy 13 are described; 1 was mosaic and 2 were partially trisomic for the distal and proximal long arm, respectively. The female patient who was mosaic for trisomy 13 exhibited microcephaly, minor dysmorphic features, a complex congenital heart defect, and malrotation of the intestine. The supernumerary No. 13 chromosome was present in only one fourth of blood lymphocyte and one third of skin fibroblast mitoses; her clinical picture has little in common with the usual trisomy 13 syndro
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- Schinzel, Albert
- Schmid, Werner
- Mürset, Gertrud
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Schinzel, A., Schmid, W., & Mürset, G. (1974). Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm. Human Genetics, 22(4), 287–298. https://doi.org/10.1007/bf00295488
