Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours ...
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O Zuffardi, Dipartimento di Patologia Umana ed Ereditaria, Sezione Biologia Generale e Genetica Medica, via forlanini 14, 27100 Pavia; zuffardi{at}unipv.it If you wish to reuse any or all of this ...
Background and methods: Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. In some cases no deletion has been detected and the ...
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, ...
1 Genetic Epidemiology Branch, Division of Cancer Epidemiology & Genetics, National Cancer Institute, Bethesda, Maryland, USA 2 Dermatology Branch, National Cancer Institute, Bethesda, Maryland, USA 3 ...
1 Departments of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China 2 Department of Paediatrics, The Chinese University of ...
Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...
Correspondence to: Gudrun A Rappold PhD, Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany; gudrun.rappold{at}med.uni-heidelberg.de Methods: To ...
Cri du chat syndrome is associated with a deletion on the short arm of chromosome 5. The main diagnostic feature is a high pitched, cat-like cry which has recently been localised to 5p15.3 and is ...
Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed ...
2 Department of Geriatric Medicine, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan 3 Department of Medicine, School of Medicine, University of Alabama at Birmingham, ...
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