A recent English court decision raises an issue clinicians increasingly face, namely whether, when and how a patient’s genetic information should be communicated to at-risk relatives. In ABC v St.

A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most ...

2 Micro Array Facility, Flanders Interuniversity Institute for Biotechnology (VIB), Leuven, Belgium 3 Centre for Human Genetics, Flanders Interuniversity Institute for Biotechnology (VIB4), Department ...

Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis ...

3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...

Background Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to ...

Background Recently, curious mutations have been reported to occur within the (CTG)n repeat tract of the myotonic dystrophy type 1 (DM1) locus. For example, the repeat, long presumed to be a pure ...

The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype ...

Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King’s College London School of Medicine, Guy’s Campus, London, UK Department of Gastroenterology, Guy’s and ...

Division of Pediatric Cardiology, Doernbecher Children’s Hospital, Oregon Health & Science University, Oregon, USA M Silberbach, MD, Department of Pediatrics, CDRC-P, Oregon Health and Science ...

Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...

3 Institute of Dermatology and Department of Dermatology at the First Hospital, Anhui Medical University, Hefei, Anhui, China 4 Key Lab of Gene Resource Utilization for Severe Diseases, Ministry of ...