Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

作者: M. Rosenberg , C. Killoran , L. Dziadzio , S. Chang , D. Stone

DOI: 10.1007/S004390100559

关键词: GenotypeGeneticsMicrosatelliteBiologyChromosomeSubtelomereGenetic markerChromosome ArmUniparental disomyGene duplication

摘要: We screened 120 children with sporadic multiple congenital anomalies and either growth or mental retardation for uniparental disomy (UPD) subtelomeric deletions. The screening used short tandem repeat polymorphisms (STRP) from the regions of 41 chromosome arms. Uninformative marker results were reanalyzed by using next available on that arm. In total, approximately 25,000 genotypes generated analyzed this study. Subtelomeric deletions 1 Mb in size excluded 27 40 Among subjects none was found to have UPD, but five (4%, 95% confidence interval 1-9%) a deletion duplication one more conclude UPD is not frequent cause undiagnosed anomaly syndrome. addition, we determined 9p 7q harbor length variations normal population. analysis effective detection duplications deletions, although it labor intensive. Given rate similar prior studies large workload imposed STRPs, STRPs are an effective, impractical, approach determination segmental aneusomy given current technology.

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