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11q trisomy detected by fluorescence in situ hybridization
T Takano1, Y Yamanouchi, S Kawashima
1Department of Hygiene & Public Health, Teikyo University School of Medicine, Tokyo, Japan.
Clinical Genetics
|December 1, 1993
Abstract:
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.