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A patient with convulsive syndrome and partial tetrasomy of chromosome 15

✍ Scribed by Gordillo-González, G.; Hernández, M.P.; Tamayo, M.L.; Osorio, G.

Book ID
123315549
Publisher
Elsevier
Year
2013
Tongue
English
Weight
793 KB
Volume
28
Category
Article
ISSN
2173-5808

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✍ Harrison, Karen J.; Teshima, Ikuko E.; Silver, Meredith M.; Jay, Venita; Unger, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 1 views

We report on a newborn infant with a de novo triplication of the distal segment of 5p: 46,XX,trp(5)(pter→p14::p14→p15.33::p15.33→ qter) and multiple congenital anomalies consistent with triplication of 5p. Partial triplication was documented by fluorescence in situ hybridization with a cosmid probe