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20 Cards in this Set

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Achondroplasia
Autosomal dominant

Dwarfism
Facies
Delayed motor development
FGR3 receptor (fibroblast)
Familial hypercholesterolemia
Autosomal dominant

Hypercholesterolemia
Heart disease
LDL receptor
Marfan syndrome
Autosomal dominant

"Spider fingers" (arachnodactyly)
Vision problems (Pax1)
Skeletal dysmorphia
No tests (pectus carinatum/excavatum, dec limb size/thin
Neurofibromatosis
Autosomal dominant

Cafe-au-lait
Lisch nodules in eye
17q11.2 microdeletion
(Neurofibrillin)
Sickle cell anemia
Autosomal recessive
B-units of Hgb
[microscopy]
PKU
Autosomal recessive

Seizure
Pseudo-autism
Developmental delay
PAH (Phenylalanine hydroxylase)

[aa quantitation]
Methylmelonic aciduria
Autosomal recessive

Severe acidosis
Liver/bm transplant
Methylmalonyl-CoA mutase

[Urine OA quantitation]
Cri-du-chat
Chromosomal

"Cry"
MR
5p deletion
DiGeorge/Velocardiofacial/Shpritzen
Chromosomal

Cardiac defects
MR
Seizures
Cleft
Thymic deficiency
22q11.2

[FISH]
Klinefelter's
Chromosomal

Hypogonadia
Gynecomastia
Long limbs
47,XXY
48,XXXY

(extra 1 or 2 X's)
Trisomy 21: Down
Robertsonian:
MR
Leukemia risk

Trisomy:
MR
Hypotonia
Facies
Short
Robertsonian translocation-
46, XY, t(14:21)
46, XY, t(21:21)

Trisomy 21-
47, XY, +21
Trisomy 13: Patau
Growth/MR
Cleft
Polydactyly
47, XY, +13
Trisomy 18: Edwards
Weird ears / Clenched fist
MR
Cardiac defect
Failure to thrive
47, XY, +18
Trisomy X
Dumb
47, XXX
Turner's
Space suit -> web neck
Dec. hairline
Renal/cardiac pblms
Short stature
45, X

(Missing sex Xsome)
Williams'
"Elft"
Xsome 7 Microdeletion
(Elastin)

[FISH]
"Not syndrome" - Prison Problem
Conduct disorder
Inc. [ ] in prisons
Knucle biting
47, XYY
Duchenne muscular dystrophy
Sex-Linked: X-recessive

Early respiratory infection
Stunted growth
'OPD'
Inc. sweat [Cl-]
Dystrophin gene deletion
Hunter
Sex-Linked: X-recessive

Inc mucopolysaccharides
Hearing loss
Dec cardiac fx
I2S enzyme (iduronate-2-sulfatase)

[tx with aldurazyme]
Lesch-Nyhan
Sex-Linked: X Recessive

Inc uric acid -> gout
Kidney problems
Self-mutilation
HGPRT deletion

[blood analyte quantitation (BUN)]