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)
- PMID: 422207
- DOI: 10.1007/BF00291927
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)
Abstract
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 chromosome.
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