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Partial trisomy 13 as a result of de novo (6p;13q) translocation

✍ Scribed by L. A. Jones; K. Taysi; A. W. Strauss; A. F. Hartmann

Publisher
Springer
Year
1979
Tongue
English
Weight
478 KB
Volume
48
Category
Article
ISSN
0340-6717

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✦ Synopsis

A newborn infant with the clinical features of the Patau syndrome was found to have excess chromosome 13 material present as a tandem translocation involving the short arm of chromosome 6 and the long arm of an extra chromosome 13: 46,XY,t(6;13)(p24;q12). The major part of the long arm of the extra chromosome 13 was attached linearly (tandem translocation) to the short arm of chromosome 6. Both parents were phenotypically and karyotypically normal.

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Partial trisomy 13q21β†’qter de novo due t
Partial trisomy 13q21β†’qter de novo due to a recombinant chromosome rec(13)dup q
✍ M. Habedank πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 531 KB

A female is described who has a karyotype with an additional distal half of 13q in a recombinant rec(13)dup q chromosome. Since her parents have normal karyotypes, the origin of her karyotype is assumed to be a premeiotic pericentric inversion de novo with crossing-over within the inversion loop at

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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)
✍ J. P. Fryns; P. Casaer; H. Berghe πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 254 KB

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 chromos