Week 2 Flashcards
(29 cards)
Williams Syndrome
- Supraventruclar aortic stenosis
- Cocktail personality
- Stellate Blue eyes
- HyperCalcemia
- Affecting Chromosome 7
- Caused by a deletion
Chromosome, Single gene, Mitochondria, Multifactorial genetic disorders
- Is a problem with dosage, there are too many or too few
- is a problem with a specific gene, that can cause a change in expression
- Is more of a metabolic disease but usually from maternal origin
- Teratogenic compounds in the environment that cause a wide range of problems
6 principles of ethics
-Autonomy, Beneficence, Justice, Non-maleficence, veracity , Fidelity
Duchene muscular dystrophy
*Pseudohypertrophy, Respiratory insufficiency, Death, Wheelchair by age 10, Fat displacing muscle in Histology slides.
Xp21 deletion, 1/3 de novo,
Hemophilla
*Excessive bleeding, Large hematomas, Missing Factor VIII
X-linked disorder
(There is a treatment of a factor packet)
Hardy Weinburg assumptions
(A Large Random MnM)
Down Syndrome
*Upslanting palpelal fissurs, Single palmer transverse crease, Moderate intelligence deficit.
- 40-50% heart disease
(Trisomy 21)
Trisomy 18
*Clinched fists, low frontal hairline, short sternum, “Fawn like ears”, Ventricular septal defect, renal problems
(Very fatal 90% die within the first year of life)
90% non-disjunction, 10% mosacism
Trisomy 13
*Omphalacele, Microcephaly, Ventricular septal defect, premaxillary anagenesis
5p- Syndrome (Cri du Chat)
*distenct cry like a cat, round face, single palmer creases, growth restriction, intellect problems
-is large enough to see on a Karyotype
Most cases are De novo
22q11 Deletion Syndrome
- Cleft pallet, Conotruncal heart malformation(Tetralogy of Fallot, interrupt aortic arch)
- non-allelic homologous recombination problem
WAGR Syndrome
*Willms tumor, Aniridia, Genital abnormalities, Retardation of growth and intellect
(Deletion of WT1/Pax6)
Klinefelter syndrome
- XXY, Azosperima, small firm testes, Gynocomastia
- One Barr body
XXX, XYY syndromes
*normal fertility, have normal offspring with No Chromosomal problems
Turner syndrome
*45, X
*SHOX gene (Haploinsufficiency), Edema in the hands/feet, Web neck, Short stature
NO Males seen, *Coractiation of the Aorta
(Check for SRY gene by FISH)
PKU
*Musty smell, hypo-pigmentation
-Pheynlalanine Hydroxylase, uses tetrahydrobiopterin
[Phe]>600
(Low protein diet)
AutoRec
Methylmalonic acidemia
*Acidosis, Intellect problems (1st week of life)
-Low protein, B12 supplements, Liver transplant
Methylmalonyl CoA Mutase Defect
Auto Rec
MCAD
*Hypoglycemia, Low Ketones, Vomiting, Shaking
- No FASTING STATE
Medium-chain acyl-CoA dehydrogenase defect
AutoRec
Ornithine Transcarbamylase Deficiency
*Increased Ammonia levels, Lethargy, Vomiting
Low citrulline,
Low protein, Ammonia Scavenger medications
- X-linked
Hereditary fructose intolerance
*Hepatomegaly, vomiting, renal dysfunction
No-Cavities
(No Fructose in diet)
Lesch-Nyhan Syndrome
- Self-mutliation, Gout, Uric Acid
- Low purines in diet, Allopurinol and medications as needed
- HGPRT
- X-linked
Biotinidase defect
*Alopecia, dermatitis, deafness
-Unable to reclaim Biotin from food or enzyme reactions
(Biotin supplements)
-AutoRec
Hunter Syndrome
*Thickend, Gargoylism, Neuroproblems
-Buildup of mucopolysaccharides,
(Iduronidate-2-sulfatase defect)
Anchondroplasia
*Rhixomelic shortening, 100% penetrance, Frontal bossing, Central Apnea
FGFR3 gene mutation
-80% De novo
