PARENTAL ORIGIN OF DE-NOVO CHROMOSOME-9 DELETIONS IN DEL(9P) SYNDROME

Parental origin of de novo deletions in the short arm of chromosome 9 in patients with a clinical diagnosis of del(9p) syndrome was assessed in 13 patients using polymerase chain reaction (PCR) analysis of high ly polymorphic dinucleotide repeat microsatellite markers located in t he putative deleted region. The deletion was found to be of paternal o rigin in 9 cases and of maternal origin in the remaining 4 cases, sugg esting that the molecular event resulting in the deletion occurs in bo th male and female ga. metogenesis and that genomic imprinting does no t appear to play a role in the pathogenesis of del(9p) syndrome. (C) 1 995 Wiley-Liss, Inc.