Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation |
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| Authors: | Utine G E Thoelen R Peeters H Vermeesch J Fryns J P |
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| Institution: | Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey. |
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| Abstract: | In this report we describe the identification of a de novo 46, XX, 13q + by multicolour fluorescence in situ hybridisation (M-FISH), as a partial distal 11q trisomy (11q23.1-->11qter). The clinical phenotype association with this distal 11q trisomy is briefly reviewed. |
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