Parental origin of de novo chromosome 9 deletions in del(9p) syndrome
- 22 May 1995
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 57 (1) , 79-81
- https://doi.org/10.1002/ajmg.1320570118
Abstract
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 micro-satellite 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 patho-genesis of del(9p) syndrome.Keywords
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