Short Report Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion size are subsequently characterized by short tandem repeat (STR) segregation tests or by further FISH probes. Recently, a multiplex lig...

Full description

Bibliographic Details

Published in:	Clinical genetics Vol. 68; no. 4; p. 373
Main Authors:	Fernández, L, Lapunzina, P, Arjona, D, I López Pajares, García-Guereta, L, Elorza, D, Burgueros, M, ML De Torres, Mori, MA, Palomares, M, García-Alix, A, Delicado, A
Format:	Journal Article
Language:	English
Published:	Malden Blackwell Publishing Ltd 01-10-2005
Subjects:	Chromosomes Comparative analysis Genetics Medical diagnosis Medical disorders
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!