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In patients #7 and #8, the centromeric markers showed heterodisomy; patient #6 was non-informative. Three previously studied patients (#s1, 2, and 4) presented isodisomy, with patients #1 and #4 ...
Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy (matUPD), paternal deletion of 14q32, or ...
Correspondence to Professor Timothy Barrett, Institute of Cancer and Genomic Sciences, University of Birmingham College of Medical and Dental Sciences, Birmingham, UK; t.g.barrett{at}bham.ac.uk ...