title: Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
abstract: 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 ligation-dependent probe amplification (MLPA) single tube assay was developed to detect deletions of the 22q11.2 region and other chromosomal regions associated with DiGeorge/velocardiofacial syndrome. We have compared the results of these three techniques in a group of 30 patients affected with 22q11.2 deletion syndrome. MLPA correctly called all patients who had been previously diagnosed by FISH. The MLPA results were concordant in all patients with the STR analysis in respect to deletion size. Furthermore, this novel technique resolved seven cases that were undetermined by STR analysis. These results confirm the efficiency of MLPA as a rapid, reliable, economical, high-throughput method for the diagnosis of 22q11.2 deletion syndrome.
authors.affiliation: Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain. lfernandez.hulp@salud.madrid.org
authors.forename: L
authors.initials: L
authors.lastname: Fernández
authors.forename: P
authors.initials: P
authors.lastname: Lapunzina
authors.forename: D
authors.initials: D
authors.lastname: Arjona
authors.forename: I
authors.initials: I
authors.lastname: López Pajares
authors.forename: L
authors.initials: L
authors.lastname: García-Guereta
authors.forename: D
authors.initials: D
authors.lastname: Elorza
authors.forename: M
authors.initials: M
authors.lastname: Burgueros
authors.forename: M L
authors.initials: ML
authors.lastname: De Torres
authors.forename: M A
authors.initials: MA
authors.lastname: Mori
authors.forename: M
authors.initials: M
authors.lastname: Palomares
authors.forename: A
authors.initials: A
authors.lastname: García-Alix
authors.forename: A
authors.initials: A
authors.lastname: Delicado
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping / Q000379:methods; D015336:Molecular Probe Techniques; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D013577:Syndrome; D020080:Tandem Repeat Sequences; D014681:Velopharyngeal Insufficiency / Q000235:genetics