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Documents Acc General Bp Mar2007 1.04

Registered as a specially authorised society under the Friendly Societies Act (1974). Registration No. 200SA.. Registered Office: British Society for Human Genetics, Clinical…

Documents sindrome

Syndrome of the month Journal of Medical Genetics 1988. 25. 47-51 Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) CHRISTINE OLEY AND MICHAEL BARAITSER…

Documents Robertsonian chromosome translocations: the basics a tutorial to show how chromosomes which have...

Slide 1 Robertsonian chromosome translocations: the basics a tutorial to show how chromosomes which have been rearranged as a result of a Robertsonian translocation can segregate,…

Documents Autosomal recessive inheritance Risks to children where a parent is affected: the basics a tutorial....

Slide 1 Autosomal recessive inheritance Risks to children where a parent is affected: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern…

Documents Autosomal dominant inheritance Risks to children where both parents are affected: the basics a...

Slide 1 Autosomal dominant inheritance Risks to children where both parents are affected: the basics a tutorial to show how the genes segregate to give the typical pedigree…

Documents X-linked recessive inheritance where the mother is a carrier: the basics a tutorial to show how the....

X-linked recessive inheritance where the mother is a carrier: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern Professor P Farndon,…

Documents An N-terminal G11A Mutation in HOXD13 Causes

An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning { Nathalie Brison1, Philippe Debeer2, Sebastian…

Documents Robertsonian chromosome translocations: the basics

Robertsonian chromosome translocations: the basics a tutorial to show how chromosomes which have been rearranged as a result of a Robertsonian translocation can segregate,…

Documents X-linked dominant inheritance: the basics a tutorial to show how the genes segregate to give the...

Slide 1 X-linked dominant inheritance: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern Professor P Farndon, Clinical Genetics Unit,…