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