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Trisomy 2p: Analysis of unusual phenotypic findings

✍ Scribed by Lurie, Iosif W. ;Ilyina, Helena G. ;Gurevich, Dora B. ;Rumyantseva, Natalja V. ;Naumchik, Irena V. ;Castellan, Claudio ;Hoeller, Adelheid ;Schinzel, Albert

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
856 KB
Volume
55
Category
Article
ISSN
0148-7299

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A de novo tandem inverted duplication of lop was diagnosed in a 17-week fetus. The appearance of GTG banded preparations and the results of fluorescence in situ hybridization (FISH) studies are consistent with duplication of the entire arm, including the telomere. The FISH studies also demonstrated