Medical Data Interpretation

DISEASE COMMON MUTATION Cystic fibrosis ΔF508 mutation on long arm of chromosome 7. This codes for the cystic fibrosis transmembrane conductance regulator Haemochromatosis C282Y mutation on the  HFE  gene on the short arm of chromosome 6. The H63D mutation can also be found

CHROMOSOMAL ABNORMALITY CONDITION Trisomy 21 Down syndrome Trisomy 18 Edward syndrome Trisomy 12 Patau syndrome 45, XO Turner syndrome 47, XXY Klinefelter syndrome 47, XXX Triple X syndrome 47, XXY Associated with behavioural problems 5p– Cri-du-chat syndrome Microdeletion at 22q11 DiGeorge syndrome Microdeletion at 7q11 Williams syndrome

MODE OF INHERITANCE EXAMPLES Autosomal dominant Achondroplasia Adult polycystic kidney disease Dystrophia myotonica Ehlers–Danlos syndrome Familial adenomatous polyposis Familial hypercholesterolaemia Hereditary haemorrhagic telangiectasia Huntington disease Marfan syndrome Neurofibromatosis Noonan syndrome Osteogenesis imperfecta Otosclerosis Tuberous sclerosis Autosomal recessive Albinism Congenital adrenal hyperplasia Cystic fibrosis Friedreich ataxia Galactosaemia Glycogen storage diseases Hereditary haemochromatosis Hurler syndrome Oculocutaneous albinism Phenylketonuria Sickle cell disease Tay–Sachs disease Thalassaemia Wilson’s disease X-linked dominant Vitamin D-resistant rickets X-linked recessive Alport syndrome Becker muscular dystrophy Duchenne muscular dystrophy Fragile X syndrome Glucose-6-phosphate dehydrogenase deficiency Haemophilia A Haemophilia B ...