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Holoprosencephaly, polydactyly and normal chromosomes: pseudo-trisomy 13?

✍ Scribed by B. G. Hewitt; M. J. Seller; C. P. Bennett; D. M. Maxwell


Book ID
115089923
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
192 KB
Volume
36
Category
Article
ISSN
0009-9163

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Pseudo-trisomy 13 syndrome
✍ Cohen, M. Michael ;Gorlin, Robert J. πŸ“‚ Article πŸ“… 1991 πŸ› John Wiley and Sons 🌐 English βš– 343 KB
Molecular studies of translocations and
✍ Robinson, W. P.; Bernasconi, F.; Dutly, F.; Lefort, G.; Romain, D. R.; Binkert, πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 41 KB πŸ‘ 2 views

Twenty-four cases of trisomy 13 and one case with disomy 13, but a de novo dic ( 13,131 ( ~1 2 ~1 2 ) chromosome, were examined with molecular markers to determine the origin of the extra (or rearranged) chromosome. Twenty-one of 23 informative patients were consistent with a maternal origin of the