Wiley J E, Stout J C, Palmer S M, Kushnick T
Department of Pediatrics, East Carolina University School of Medicine, Greenville, North Carolina 27858, USA.
Am J Med Genet. 1995 Jul 17;57(4):579-80. doi: 10.1002/ajmg.1320570412.
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.
