Je. Wiley et al., DE-NOVO NONRECIPROCAL TRANSLOCATION-1-8 CONFIRMED BY FLUORESCENT IN-SITU HYBRIDIZATION, American journal of medical genetics, 57(4), 1995, pp. 579-580
Constitutional nonreciprocal translocations are extremely rare, and ev
en their existence is controversial. We report on a newborn infant wit
h a de novo nonreciprocal translocation between chromosomes 1 and 8 re
sulting in 1q42,3 deletion syndrome. Fluorescent in situ hybridization
with whole chromosome paints confirmed the conventional cytogenetic d
iagnosis. (C) 1995 Wiley-Liss, Inc.