[Eric Zhuang]

I really depressed when i study Genetic disorders in Paediatric (Blueprint)

I can't remember which one is AD or AR .. also Genes and Chromosome..


Anyone help me ?
Guide me how to memorize !

 

[ali khalid]

I really depressed when i study Genetic disorders in Paediatric (Blueprint)

I can't remember which one is AD or AR .. also Genes and Chromosome..

Anyone help me ?
Guide me how to memorize !

actually it's easy , they say that most of the metaboic genetic abnormalities are AR with few exception like vit D resistant rickets for instance, and that all of the structral abnormality are maily AD with few exceptions...

 

[rasheed]

Memorize Autosomal dominant and X linked recessive

Have a look at these two threads to help you memorize the AD and XR diseases, anything else is AR
http://www.usmle-forums.com/usmle-step-1-bits-pieces/1664-list-x-linked-recessive-disorders.html
http://www.usmle-forums.com/usmle-step-1-bits-pieces/1663-list-autosomal-dominant-diseases.html

 

[FSUSTC]

I made this mnemonic of A . dominant ds for my exam , it worked for me .. i hope it will help u ......
Autosomal dominant disease .. HAT OF MAN
H = Huntington disease
HNPCC
Heridatory spherocytosis
A = acute intermittent porphyria
T = tuberous sclerosis

O = osteogenesis imperfecta
F = Familial Hypercholesterolemia

M = Marfan syndrome
Malignant hyperthermia
Myotonic dystrophy
A = amyotropic lateral sclerosis
achondroplasia
APKD
N = Neuro fibromatosis - 1