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Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders
Background/Objectives Exome sequencing may identify pathogenic variants unrelated with the purpose of the analysis. We investigated the frequency of secondary and incidental findings (SF/IF) in cancer ...
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CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing
2 West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK Background Identification of CNVs through chromosomal microarray (CMA) testing is the ...
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Practice evaluation of biobank ethics and governance: current needs and future perspectives
Correspondence to Holger Langhof, QUEST-Center for Transforming Biomedical Research, Charité – University Medicine, Berlin Institute of Health (BIH), Berlin 10178, Germany; ...
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Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer
Background Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a ...
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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
Correspondence to Dr Robert J Desnick, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue and 100th Street, Box 1498, New York, NY 10029, USA; ...
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Turner's syndrome and 46,X,i(Yq) karyotype
A patient with features of Turner's syndrome is reported. In her karyotype there were 46 chromosomes including 15 chromosomes in the C group and one metacentric marker the size of a No. 16. This ...
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Iron genes, iron load and risk of Alzheimer’s disease
1 Oxford Project To Investigate Memory and Ageing, Oxford Centre for Gene Function, University Department of Physiology, Anatomy and Genetics, Oxford, UK 2 Department of Haematology, School of ...
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Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Correspondence to: Dr V R Sutton, Department of Molecular and Human Genetics, Baylor College of Medicine, ...
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Possible Waardenburg syndrome with gastrointestinal anomalies.
We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal ...
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Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3
2 Division of Neurology, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain 3 Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium ...
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
45 Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands Correspondence to Jiddeke Matuja van de Kamp, Department of Clinical Genetics, ...