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Partial trisomy 6p from a de novo translocation (6; 18) with variable mosaicism in different tissues

✍ Scribed by Sabine Rudnik-Schönebom; Regine Schubert; Frank Majewski; Fritz Haverkamp; Gesa Schwanitz


Book ID
110887664
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
621 KB
Volume
52
Category
Article
ISSN
0009-9163

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De novo ?pure? partial trisomy (6)(p22.1
✍ Engelen, J.J.M. ;Marcelis, C.L.M. ;Alofs, M.G.P. ;Loneus, W.H. ;Pulles-Heintzber 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 285 KB 👁 2 views

We report on a newborn boy with a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, facial anomalies and unilateral hydronephrosis. Cytogenetic analysis showed extra chromosomal material on the short arm of one chromosome 15 that at first sight could be mistake