11q trisomy detected by fluorescence in situ hybridization
- 1 December 1993
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 44 (6) , 324-328
- https://doi.org/10.1111/j.1399-0004.1993.tb03909.x
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.Keywords
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