Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11) |
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| Authors: | J P Fryns P Casaer H Van den Berghe |
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| Institution: | (1) Division of Human Genetics, Department of Human Biology, Minderbroedersstraat, 12, B-3000 Leuven, Belgium;(2) Department of Pediatrics, Gasthuisberg, Herestraat, B-3000 Leuven, Belgium |
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| Abstract: | Summary A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del (13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromosomse. |
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