mjl1717
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Can anyone give 10 (not 7 or8 ) but 10 x-linked recessive disorders??
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| Mars-Aris
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1. Hunter's
2. Fabry's
3. Hemophilia
4. Lesch Nyhan
5. Bruton's
6. Wiskott - Aldrich
7. G6PD
8. fragile X
9. SCID
10. chronic granulomatous disease
11. duchenne's
what about SXD diseases ?? one is enough...two is superb ... :wink:
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| MLF
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1.Hunters = iduronate sulfatase (spelling not sure)no corneal clouding mild mental retardation compared with hurlers.
2. Fabrys = Deficient Alpha Galactosidase, ceramide trihexoside accumulates. Renal failure
3. Hemophilia A is def of Factor VIII and B is def of Factor IX. Both show prolonged PTT.
4. Lesch Nyhan = Problem with purine metabolism, HGPRT def. Self mutilating behavior, hyperuricemia, and Gout.
5. Brutons = Def of all Antibody classes, resulting in infections in baby boys after age 6mos, recurrent bacterial infections.
6. Wiskott Aldrich = Triad of Thrombocytopenia, infections, and eczema. Decrease IgM.
7. G6PD = Def results in an inability to reduce glutathione causing hemolysis to rbc's, hemolytic anemia, heinz bodies.
8. Fragile X = Trinucleotide repeat of CGG, resulting in mental retardation, large jaw and testis.
9. SCID = Def of ADA, or other mechanisms, like defective IL 2 receptors. Stem cells can't differentiate. Will ge bacterial, fungal and viral infections.
10. CGD = NADPH oxidase def, resulting in impaired neutrophil phagocytosis. Do nitroblue tetrazolium dye reduction test for diagnosis.
11. Duchenne = Frameshift mutation resulting in deletion of dystrophin. Pseudohypertrophy of calf muscles and patients get up from a sitting position using the help of upper limbs. Weakness begins in pelvic muscles and travels superiorly. Also results in cardiac myopathy.
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| mjl1717
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Also ocular albinism./You could have volunteered those x-link dominant.
As I remember Vitamin D dependent Rickets is Xlinked dominant
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| Mars-Aris
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if you add also a disease that causes hereditary deafness & nephropathy..:wink: ... to the SXD i would say.... SUPERB !! 8)
very nice & short outline of the SXR's :!:
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| kushi
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is it alport's syndrome?
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| Mars-Aris
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yeap 
Alport's is SXD (hereditary glomerulonephritis + deafness)
incresed incidence in Mormon's
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| Mars-Aris
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12. testicular feminization
MCC of male pseudohermaphroditism
defciciency of androgen receptors
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