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 Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, California, USA 2 Department of Pediatrics, University of California Davis, School ...

METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...

Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting ...

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4 Department of Radiology, Addenbrooke’s NHS Trust, Cambridge, UK 5 Department of Audiology, Addenbrooke’s NHS Trust, Cambridge, UK Correspondence to: M P Snead Vitreoretinal Service, Box 41, ...

Little is understood of the genotype/phenotype correlations in X linked glycerol kinase deficiency (GKD) where most cases are caused by extensive deletions of Xp21, which often include genes flanking ...

1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...

3 NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology ...

A formula to calculate recurrence risk for germline mosaicism published by Hartl in 1971 has been updated to include marker information. For practical genetic counselling new, more elaborate tables ...

3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...