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.