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 ...
Disclosure of genetic information to relatives: balancing confidentiality and relatives’ interests
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 ...
a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...
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 ...
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy ...
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 ...
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 ...
Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated ...
Correspondence to Dr Nina Ajmone Marsan, Cardiology, Leiden University Medical Center, Leiden, Zuid-Holland, Netherlands; N.Ajmone{at}lumc.nl Methods Patients with MVP were referred for genetic ...
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