title: Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations.
abstract: We describe a boy with multiple congenital anomalies including a complex heart defect, club feet, adducted thumbs, and facial dysmorphic features. He died at the age of 2 months following cardiac surgery. G-banding analysis identified an abnormal chromosome 5q suspected to be an interstitial deletion (5)(q33q35). Breakpoints of the deleted segment were confirmed as del(5)(q33.3q35) by multicolor fluorescence in situ hybridization (FISH) using two sets of combinatorially labeled band specific YAC clones. Findings are discussed in view of previously published cases.
authors.affiliation: Institute of Human Genetics, University of Heidelberg, Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Schiffer
authors.forename: Susanne
authors.initials: S
authors.lastname: Popp
authors.forename: Sharareh
authors.initials: S
authors.lastname: Moshir
authors.forename: Gerhard
authors.initials: G
authors.lastname: Rupprath
authors.forename: Elke
authors.initials: E
authors.lastname: Düngfelder
authors.forename: Hans-Dieter
authors.initials: HD
authors.lastname: Hager
authors.forename: Gholamali
authors.initials: G
authors.lastname: Tariverdian
authors.forename: Anna
authors.initials: A
authors.lastname: Jauch
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002872:Chromosome Deletion; D020223:Chromosome Painting; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male