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Tetrasomy 5p mosaicism due to an additional isochromosome 5p in a man with normal phenotype

✍ Scribed by Anna Venci; Daniela Bettio


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
79 KB
Volume
149A
Category
Article
ISSN
1552-4825

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Tetrasomy 5p mosaicism due to an extra i
✍ Lorda-SΓ‘nchez, Isabel; Villa, Amelia; Urioste, Miguel; Bernal, Esther; Jaso, Enr πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 151 KB

We present a case of mosaic 5p tetrasomy. The mosaicism 46,XX/47,XX,Ο©i(5p) was found at different ratios in blood lymphocytes, skin fibroblasts, and chondrocytes. The origin of the extra isochromosome was confirmed by FISH. The clinical picture corresponds to that described in trisomy 5p patients, a