11q trisomy detected by fluorescence in situ hybridization
| Autor: | Takako Takano, Masatsune Date, Mitsushiro Kida, Yutaka Nakahori, Shintaro Hashira, Yasuko Yamanouchi, Toshiaki Abe, Shoko Kawashima, Yasuo Nakagome |
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| Rok vydání: | 1993 |
| Předmět: |
In situ
Male medicine.medical_specialty Marker chromosome Trisomy Biology Left inguinal hernia Polymerase Chain Reaction Translocation Genetic Asian People Japan Y Chromosome Genetics medicine Humans Abnormalities Multiple Genetics (clinical) In Situ Hybridization Fluorescence medicine.diagnostic_test Mosaicism Chromosomes Human Pair 11 Cytogenetics Infant Newborn Chromosome Mapping Infant Karyotype medicine.disease Molecular biology Chromosome Banding Female Chromosome painting Fluorescence in situ hybridization |
| Zdroj: | Clinical genetics. 44(6) |
| ISSN: | 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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