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a The University
Department of Medical Genetics and Regional Genetic Service, St Mary's
Hospital, Manchester M13 0JH, UK, b National Human Genome Research
Institute, NIH, Bethesda, MD 20892, USA, c Institute of
Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK, d Department
of Paediatrics, Trafford NHS Trust, Trafford General Hospital,
Manchester M41 5SL, UK
Correspondence to: Dr Slavotinek.
Received 29 May 1998;
Revised version accepted for publication 12 October 1998
Recently much attention has been given to the detection of
submicroscopic chromosome rearrangements in patients with idiopathic mental retardation. We have screened 27 subjects with mental
retardation and dysmorphic features for such rearrangements using a
genetic marker panel screening. The screening was a pilot project using markers from the subtelomeric regions of all 41 chromosome arms. The markers were informative for monosomy in both parents at 366/902 loci (40.6%, 95% confidence interval 37.0-44.2%) in the 22 families where DNA was available from both parents. In two of the 27 subjects, submicroscopic chromosomal aberrations were detected. The first patient
had a 5-6 Mb deletion of chromosome 18q and the second patient had a 4 Mb deletion of chromosome 1p. The identification of two deletions in 27 cases gave an aberration frequency of 7.5% without adjustment for
marker informativeness (95% confidence interval 1-24%) and an
estimated frequency of 18% if marker informativeness for monosomy was
taken into account. This frequency is higher than previous estimates of
the number of subtelomeric chromosome abnormalities in children with
idiopathic mental retardation (5-10%) although the confidence interval
is overlapping. Our study suggests that in spite of the low
informativeness of this pilot screening, submicroscopic chromosome
aberrations may be a common cause of dysmorphic features and mental retardation.
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