11q trisomy detected by fluorescence in situ hybridization |
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| Authors: | Takako Takano Yasuko Yamanouchi Shoko Kawashima Masatsune Date Shintaro Hashira Mitsushiro Kida Toshiaki Abe Yutaka Nakahori Yasuo Nakagome |
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| Institution: | Departments of Hygiene &Public Health, Tokyo;Pediatrics, Teikyo University School of Medicine, Tokyo;Department of Human Genetics, School of International Health, University of Tokyo, Tokyo, Japan |
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| Abstract: | Takano T, Yamanouchi Y, Kawashima S, Date M, Hashira S, Kida M, Abe T, Nakahori Y, Nakagome Y. 11q trisomy detected by fluorescence in situ hybridization. Clin Genet 1993: 44: 324–328. © Munksgaard, 1993 A patient with psychomotor developmental delay, multiple minor anomalies, congenital heart disease and left inguinal hernia is reported. His karyotype was 45,X/46,X,+mar (3 : 37 cells), and the marker chromosome was identified as t(Y;11) (q12;q14?) using fluorescence in situ hybridization and fluorescent chromosome painting. He was diagnosed as mosaic for de novo 11q trisomy. |
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| Keywords: | chromosome painting fluorescence in situ hybridization marker chromosome 11q trisomy |
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