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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)

✍ Scribed by J. P. Fryns; P. Casaer; H. Berghe

Publisher: Springer
Year: 1979
Tongue: English
Weight: 254 KB
Volume: 46
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00291927

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✦ Synopsis

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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