bozhenka
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IT'S X-LINKED - so, all males are affected, and female if she heterozygous show no physical signs other than early menopause, but they may have learning difficulties or frank retardation.
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| mjl1717
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Id say x-linked recessive
***X-link dominant is rare, I only know of hypophosphatemia and Vit D dependent rickets.
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| DiaHuq
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actually 30-50%of female carriers who have the full mutation(>240 repeats) will have mental retardation,so even in robbins in one place it says SXD while in another SXR,in the text it says variable inheritance but x-linked.
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| mjl1717
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In this case of ambiguity, I wouldnt worry if anything i could see the usmle just having multiple choice with:
autosomal dominant
"""""""" recessive
mitochondrial
x -linked
y- linked
multifactorial
Ill return with more info.
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| indlaxman
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YES you r right many books says it SXD AND SOME S says it is SXR I WILL GO W/ SXD .DiaHuq
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| adeelmd
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alport is also x-linked dominant... (plus vit d res and fragile x)... doubtful they would ask it on step one, but at least it helps remeber that these diseases are xlinked
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