dxtxpx
Forum Guru
Topics: 259
Posts: 1,233
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Few examples
AUTOSOMAL RECESSIVE
CF, Fanconi's anemia, Hartnup dis, Kartagner synd, Pyruvate dehydrogenase def, Xeroderma pigmentosa, Cong fructose Intolerance, Galactosemia, Cori's dis, Mc Ardle dis, Pompe dis, Fabry's dis, Gaucher's dis, Neiman Pick dis, Hurler dis, Tay Sachs, Albinism, Alkaptonuria, Homocystinuria, Maple syrup urine dis, PKU, Von Gierke's dis, Ataxia telangectasia, SCID, Bartter synd, Fanconi synd I, II, Glycolytic enz def, PKD,
AUTOSOMAL DOMINANT
Familial hypercholesterolemia, Osler Weber Rendu synd, Hered spherocytosis, Huntington dis, Marfan synd, NF (Von Recklinghausen), Tuberous Sclerosis, VWD, PKD
X LINKED DISEASES
Fragile X, Turner synd, XXX synd, CGD, Bruton's agammaglobulinemia
X LINKED RECESSIVE
Hemophilia A & B, Hunter synd, Lesch Nyhan, G6PD def
CHROMOSOMAL DISORDERS
Criduchat (5), Patau synd (13), Angelman/Prader Willi (15), Edward synd (18), Down synd (21), Turner synd (45), XXX synd (47)
CONNECTIVE TISSUE DISORDERS
Ehlers Danlos, Osteogenesis Imperfecta
PHAGOCYTIC DISORDERS
Chediak Higashi synd, CGD, Job's synd
B-CELL DEFECTS
Selective IgA def, Bruton's
T-CELL DEFECTS
Chronic mucous candidiasis, Di George synd
COMBINED DISORDERS
Ataxia Telangectasia, SCID, Wiscott Aldrich synd
IMMUNE DEFICENCIES
Ataxia Telangectasia, Chediak Higashi, CGD, Chronic mucous candidiasis, Di George synd, Job's synd, Selective IgA def, SCID, Wiscott ALdrich, Bruton's
GENOMIC IMPRINTING
Angelman, Prader Willi
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| mistral92
Forum Senior
Topics: 4
Posts: 185
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Edaward Sd chr 18 :oops:
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| dxtxpx
Forum Guru
Topics: 259
Posts: 1,233
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yeah thats what i wrote too for edward synd, but somehow this site always show that cool icon whenever u write number eight
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| aiysha
Forum Senior
Topics: 31
Posts: 133
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thanks for replying , can give me a tip to memorize it easily.
good luck.
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| aiysha
Forum Senior
Topics: 31
Posts: 133
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hi !
i want to ask PKD is autosomal dominant or recessive ?
thanks & good luck.
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| dxtxpx
Forum Guru
Topics: 259
Posts: 1,233
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Adult polycystic kidney dis is autosomal dominant
Polycystic kidney disease in children in autosomal recessive
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| aiysha
Forum Senior
Topics: 31
Posts: 133
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thanks dxtxpx.
good luck for your exams.
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| dxtxpx
Forum Guru
Topics: 259
Posts: 1,233
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thankyou I just started so I am gonna take some time. I dont even have all the books yet but I am getting them soon
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