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Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype

✍ Scribed by Joris Robert Vermeesch; Cindy Melotte; Ivo Salden; Mariluce Riegel; Vladimir Trifnov; Anna Polityko; Natalia Rumyantseva; Irina Naumchik; Heike Starke; Gert Matthijs; Albert Schinzel; Jean-Pierre Fryns; Thomas Liehr


Book ID
116432805
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
255 KB
Volume
48
Category
Article
ISSN
1769-7212

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Maternal origin of a unique extra chromo
✍ Teraoka, Michio ;Narahara, Koji ;Yokoyama, Yuji ;Ninomiya, Shinsuke ;Mizuta, Sho 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 1 views

We report on a girl with the typical trisomy 9p syndrome who had an additional E-sized metacentric chromosome. On the basis of GTG-and CBG-banding, her karyotype was considered to be 47,XX,þder(9)(pter!q13:: q13!q12:) de novo. Results of a ¯uorescence in situ hybridization study using a chromosome 9