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48 Cards in this Set
- Front
- Back
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Neurofibromatosis |
Autosomal dominant |
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Huntingtons |
Autosomal dominant |
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Polycystic kidney disease |
Autosomal dominant |
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Familial poliposis Coli |
Autosomal dominant |
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Marfans |
Autosomal dominant |
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Ehler’s Danlos Syndrome |
Autosomal dominant |
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Osteogenesis Imperfecta |
Autosomal dominant |
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Hereditary Spherocytosis |
Autosomal Dominant |
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Von Willebrand’s Disease |
Autosomal Dominant |
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Familial hypercholesterolaemia |
Autosomal dominant |
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Familial hypercholesterolaemia chromosome number |
19 |
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Cystic Fibrosis |
Autosomal recessive |
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Phenylketonuria |
Autosomal recessive |
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Alpha1 anti trypsin deficiency |
Auto recessive |
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Wilson’s disease |
Auto recessive |
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Haemochromatosis |
Autosomal recessive |
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Glycogen storage deficiency |
Autosomal recessive |
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Lysosome storage deficiency |
Autosomal recessive |
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Congenital adrenal hyperplasia |
Autosomal recessive |
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Sickle Cell anaemia |
Autosomal recessive |
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Hereditary spherocytosis |
Autosomal recessive |
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Friedreich ataxia |
Autosomal recessives |
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Spinal muscular atrophy |
Autosomal recessive |
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Duchennes muscular dystrophy |
X linked recessive |
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Haemophillia A and B |
X linked recessive |
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Chronic granulomatous disease |
X linked recessive |
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G6PD deficiency |
X linked recessive |
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Gammaglobulinaemia |
X linked recessive |
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Diabetes insipidus |
X linked recessive |
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Fragile X syndrome |
X linked recessive |
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Chronic myeloid leukaemia |
Cytogenic disorder Translocation of 9th and 22nd |
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Burkitt’s lymphoma |
Cytogenic disorder Translocation of 8,14 or 2,8 or 8,22 |
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Down syndrome |
Trisomy 21 |
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Edwards syndrome |
Trisomy 18 |
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Turners syndrome |
45 X (missing one X chromosome) |
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PolyX females |
Triple X chromosome |
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Klinefelter’s syndrome |
XXY |
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Chronic myeloid leukaemia |
Cytogenic disorder Translocation of 9th and 22nd |
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Burkitt’s lymphoma |
Cytogenic disorder Translocation of 8,14 or 2,8 or 8,22 |
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Down syndrome |
Trisomy 21 |
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Edwards syndrome |
Trisomy 18 |
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Turners syndrome |
45 X (missing one X chromosome) |
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PolyX females |
Triple X chromosome |
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Klinefelter’s syndrome |
XXY |
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Patau Syndrome |
Trisomy 13 |
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Fragile X |
Triple repeat mutations |
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Leber hereditary optic neuropathy |
Extra nuclear inheritance through mitochondrial genes |
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Prader-Willi and Angelman syndrome |
Genomic imprinting (epigenetics) |
