Results We identified two patients (2.1%) with a mixture of maternal isodisomy and heterodisomy of chromosome 16 in 94 aetiology-unknown patients with SRS phenotype. Both patients exhibited preterm ...

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 ...

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 ...