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Three cases of trisomy 13 mosaicism and a review of the literature

โœ Scribed by M. Delatycki; R. J. M. Gardner


Book ID
110887645
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
681 KB
Volume
51
Category
Article
ISSN
0009-9163

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๐Ÿ“œ SIMILAR VOLUMES


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I have read with great interest the paper by Crowe et al. [1997]. It is an excellent clinical and cytogenetic review of trisomy 22 in its various manifestations. I only wish to point out that the first proven case (by G-banding) of trisomy 22 appeared in 1973, in a paper in which we demonstrated the

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In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism wa

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## Abstract Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with

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While the clinical features associated with full trisomy 13 have been well characterized, the clinical outcome associated with mosaic trisomy 13 is much less clear. The medical literature reports a broad range of possible clinical outcomes from severe mental retardation and birth defects to normal i