title: [Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients].
abstract: The chromosome 22q11 deletion syndrome may present with a variety of phenotypes. Its symptoms generally include a characteristic facial dysmorphisms and multiplex developmental disorders. Fluorescence in situ hybridization is the current method of choice for the diagnosis if typical multiple defects and/or symptoms are present. The authors present the history of two patients who were followed-up for minor anomalies and various developmental disorders for several years in the genetic counseling office of the authors, but definitive diagnosis was not established. However, when DNA samples of the two patients were recently tested with array comparative genome hybridization, a diagnostic method which has already been used in their institute for several years, the results indicated deletion of the 11.2 region on the long arm of chromosome 22 in both patients. The authors draw attention to the incidence and wide phenotypic spectrum of the chromosome 22q11 deletion syndrome, and show that its identification can be aided with the novel molecular cytogenetic method available in their laboratory.
authors.affiliation: Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József A. u. 7., 7623.
authors.forename: Ágnes
authors.initials: Á
authors.lastname: Till
authors.affiliation: Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József A. u. 7., 7623.
authors.forename: Kinga
authors.initials: K
authors.lastname: Hadzsiev
authors.affiliation: Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József A. u. 7., 7623.
authors.forename: Anett
authors.initials: A
authors.lastname: Lőcsei-Fekete
authors.affiliation: Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József A. u. 7., 7623.
authors.forename: Márta
authors.initials: M
authors.lastname: Czakó
authors.affiliation: Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József A. u. 7., 7623.
authors.forename: Balázs
authors.initials: B
authors.lastname: Duga
authors.affiliation: Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József A. u. 7., 7623.
authors.forename: Béla
authors.initials: B
authors.lastname: Melegh
mesh_terms: D058165:22q11 Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000534:rehabilitation / Q000628:therapy*; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype
keywords: 22q11 deletion syndrome; 22q11 kromoszóma deletiós szindróma; FISH; arcdysmorphia; array-CGH; facial dysmorphisms