Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study

Human Genetics
A J SwerdlowUK Clinical Cytogenetics Group

Abstract

Constitutional chromosome deletions result in wide ranging morbidity and often fatality. Information about risks and causes of death in these patients is important for counselling, and may illuminate the functions of the part of the chromosome deleted. There have been no cohort studies analysing mortality risks in persons with specific deletions compared with general population rates. We therefore conducted a cohort study following cause-specific mortality in 2,561 patients with autosomal chromosome deletions diagnosed by light microscopy or fluorescence in situ hybridisation at cytogenetic laboratories across Britain, 1965-2002. The commonest deletions were of 22q (544 patients), 15q (460) and 7q (210) and the least common 19q (0) and 20q (2). The prevalence of visible deletions of different chromosome arms was significantly inversely correlated with gene density of the arm (p < 0.001). Mortality was 11-fold raised in the cohort compared with the general population (standardised mortality ratio = 11.4 (95% confidence interval 10.0-12.8)), was significantly raised for each deletion with > or = 25 subjects in the study, and had a lower confidence limit > 10 for deletions of 1p, 1q, 3p, 4p, 5q and 22q. Overall, 29% of deaths were...Continue Reading

References

Jul 15, 1983·Science·J J Yunis
Oct 5, 2001·Journal of Medical Genetics·N L ShannonO W Quarrell
Jun 5, 2002·Genome Research·W James KentDavid Haussler
Feb 14, 2006·European Journal of Medical Genetics·Paola Cerruti MainardiFranca Dagna Bricarelli
Apr 7, 2006·American Journal of Mental Retardation : AJMR·Stewart L EinfeldJohn Taffe
Jul 24, 2007·Indian Journal of Dermatology, Venereology and Leprology·S Amladi

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Citations

Sep 4, 2014·Annual Review of Genomics and Human Genetics·Patricia A Jacobs
Aug 5, 2011·American Journal of Medical Genetics. Part a·Elizabeth A JonesNick Bown
Jun 5, 2015·Clinics in Perinatology·Anne Slavotinek, Marwan Ali

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