title: De novo nonreciprocal translocation 1;8 confirmed by fluorescent in situ hybridization.
abstract: Constitutional nonreciprocal translocations are extremely rare, and even their existence is controversial. We report on a newborn infant with a de novo nonreciprocal translocation between chromosomes 1 and 8 resulting in 1q42.3 deletion syndrome. Fluorescent in situ hybridization with whole chromosome paints confirmed the conventional cytogenetic diagnosis.
authors.affiliation: Department of Pediatrics, East Carolina University School of Medicine, Greenville, North Carolina 27858, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Wiley
authors.forename: J C
authors.initials: JC
authors.lastname: Stout
authors.forename: S M
authors.initials: SM
authors.lastname: Palmer
authors.forename: T
authors.initials: T
authors.lastname: Kushnick
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002898:Chromosomes, Human, Pair 8; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic