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11q trisomy detected by fluorescence in situ hybridization
Author(s) -
Takano Takako,
Yamanouchi Yasuko,
Kawashima Shoko,
Date Masatsune,
Hashira Shintaro,
Kida Mitsushiro,
Abe Toshiaki,
Nakahori Yutaka,
Nakagome Yasuo
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03909.x
Subject(s) - fluorescence in situ hybridization , trisomy , karyotype , in situ , in situ hybridization , comparative genomic hybridization , chromosome , biology , pathology , microbiology and biotechnology , genetics , medicine , chemistry , gene , gene expression , organic chemistry
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.