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A new case of “complete” trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23)

✍ Scribed by M. Fujita; E. Flori; F. Lemaire; R. Casanova; D. Astruc


Book ID
115091525
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
322 KB
Volume
45
Category
Article
ISSN
0009-9163

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📜 SIMILAR VOLUMES


‘Complete’ trisomy 5p; de novo transloca
✍ N. J. Leschot; K. S. Lim 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 344 KB

A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patien

Franceschetti syndrome in a child with a
✍ P. Balestrazzi; M. A. Baeteman; M. G. Mattei; J. F. Mattei 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 874 KB

We report a previously undescribed case of a de novo balanced translocation t(5;13)(q11;p11) and Franceschetti syndrome in a 3-year-old girl. The hypothesis that this unusual association might not be coincidental but rather due to position effect is proposed. Moreover the significant decrease of hex