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 highly polymorphic dinucleotide repeat microsatellite markers located in the putative deleted region. The deletion was found to be of paternal origin in 9 cases and of maternal origin in the remaining 4 cases, suggesting that the molecular event resulting in the deletion occurs in both male and female gametogenesis and that genomic imprinting does not appear to play a role in the pathogenesis of del(9p) syndrome.
Micale
M A
MA
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Haren
J M
JM
Conroy
J M
JM
Crowe
C A
CA
Schwartz
S
S
D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D013577:Syndrome
D004276:DNA, Satellite; D005819:Genetic Markers