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Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype

✍ Scribed by Anne Frühmesser; Edda Haberlandt; Werner Judmaier; Albert Schinzel; Barbara Utermann; Martin Erdel; Christine Fauth; Gerd Utermann; Johannes Zschocke; Dieter Kotzot


Book ID
111995267
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
607 KB
Volume
158A
Category
Article
ISSN
1552-4825

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Subtelomeric 6p monosomy and 12q trisomy
✍ C. Nur Semerci; Mine Cinbis; Reinhard Ullmann; Anne Steininger; Muhterem Bahce; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 2 views

## Abstract We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array‐based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay,