Genetic Disorders Flashcards
1
Q
11p13 del
A
WAGR syndrome Wilm's tumor (renal tumor of childhood) Aniridia Genital Anomalies Mental retard
2
Q
Trisomy 13
A
Patau's Syndrome (P for Puberty = 13) 1st trimester: decrased: B-hCG, PAPP-A -cleft lip Microphthalmia -mental retard -Polydactyly -Congenital heart dz -Renal defects
3
Q
5p del
A
Cri-du-chat syndrome
- crying = meowing kitten
- microcephaly
- mental retard
- epicanthal folds
- cardiac dects
4
Q
Trisomy 18
A
Edwards syndrome (E= election age= 18)
1st trimester: Decreased: PAPP-A & free-hCG
decreased: a-fetoprotein, B-hCG, estriol, inhibin A
-severe mental retard
-micrognathia
-low set ears
-congenital heart defects
-limited hip abduction
-rocker bottom feet
5
Q
HLA-A3
A
hemochromatosis
6
Q
HLA-B8
A
Addision Dz
Myasthenia gravis
7
Q
HLA-B27
A
Seronegative arthropathies (PAIR)
- Psoriatic arthritis - Ankylosing spondylitis - IBD-asc arthritis - Reactive Arthritis
8
Q
HLA-DQ2/8
A
Celiac
9
Q
HLA-DR2
A
MS, Hay fever, SLE, Goodpasture
10
Q
HLA-DR3
A
DMI SLE Graves Hasimoto thyroiditis Addison dz
11
Q
HLA-DR4
A
Rheumatoid arthritis
DM1
Addison
12
Q
HLA-DR5
A
Pericious Anemia
Hashimoto thyroiditis
