X-linked Recessive disorders
("HE's" get x-linked recessive disorders)
Never answer one of these diseases for a woman! If you are going to answer one of these, you should have an upper motor neuron reflex to look at the stem of the question to make sure its a boy.
Fragile X (self explanatory)
Duchenne Muscular Dystrophy (duc"HE"nne)
Becker Muscular Dystrophy
Hemophilia A (Factor VIII) ("HE"mophilia)
Hemophilia B (Factor IX)
Bruton's Agammaglobulinemia (BOYS get Brutons)
Alport's Syndrome (picture a helicopter at the airport landing. The propeller is shaped like an "X")
G6PD Deficiency (he's get "HE"inz bodies)
Lesch-Nyhan Syndrome
Adrenoleukodystrophy
Fabry Disease (Fabr"HE"s disease)
Hunter's Syndrome (hunters aim at an "X")
Menkes Disease (menk"HE"s, Kinky Hair syndrome, copper problem, don't forget Wilson's disease is also a copper problem)
Rett syndrome (Men, who only have one X chromosome, die before they're born, women have 2 x chromosomes so they can survive to exhibit the disease. This is an exception to the rule that only men are affected by XLR diseases. Thanks Keith)
Wiskott-Aldrich Syndrome (triad of eczema, low platelets, and immune deficiency. Don't forget that eczema is a fancy word for an itchy rash.)
What People Are Getting Wrong This Week: The Pope Opening the Tomb of
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Doesn't Rett's only affect girls?
ReplyDeleteHi Keith,
ReplyDeleteGood pick up. However, Rett's does affect males much worse than females. Males with the disease are hardly every carried to term. Since women have 2 X's, they can survive and thus they exhibit the characteristics of Rett's.
This is a XLD not XLR !
ReplyDeleteAgree. XLD.
DeleteDon't forget SCID, the defected IL-2 receptor type. most common type of SCID.
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