Term
What are the cardinal signs of achondroplasia?
Inheritance? |
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Definition
Short long bones, large skull, trident hand.
Autosomal dominant |
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Term
| Cardinal signs and inheritance of ehlers-danlos syndrome? |
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Definition
| Stretchy skin, double jointed, poor wound healing. Autosomal dominant (NB: other form is vasculature rupture). |
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Term
| Cardinal signs and inheritance of HHT? |
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Definition
| hereditary hemorrhagic telangiectasia: red dots (telangiectasias) that can bleed, nosebleeds. Autosomal dominant. |
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Term
| cardinal signs and inheritance of retinoblastoma? |
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Definition
| Retinal tumors ("white eye") before age 5. Predisposed to other primary cancers. Autosomal dominant requiring a 2nd "hit." |
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Term
| cardinal signs and inheritance of tuberosclerosis? |
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Definition
| brain, kidney, heart, lungs, skin (shagreen "orange peel" patches, subungual fibromas, angiofibromas, hypomelanotic macules). Autosomal dominant. |
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Term
| cardinal signs and inheritance of alpha-1-antitrypsin deficiency? |
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Definition
Early onset liver and lung disease (cirrhosis, COPD)
Autosomal recessive |
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Term
| cardinal signs and inheritance of gaucher? |
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Definition
| One of the ashkenazy Jewish diseases: Variable expressivity secondary to allelic heterogeneity (clinical heterogeneity). Anemia, hepato/splenomegaly, bone pain. Autosomal recessive. |
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Term
| cardinal signs and inheritance of hemochromatosis |
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Definition
| Reduced fertility, skin pigmentation increases, diabetes, heart failure, arthritis, liver failure. Exacerbated by alcohol (liver affector). Autosomal recessive w/ reduced penetrance and male susceptibility (no menses). |
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Term
| Hurler syndrome cardinal signs and inheritance |
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Definition
| Coarse facial features, corneal clouding. Autosomal recessive. |
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Term
| cardinal signs and inheritance of MCAD |
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Definition
| medium chain acyl-coA dehydrogenase (Beta Ox enzyme, used in Ketone body synth). Fasting, illness -> vomiting, lethargy, perhaps death. Autosomal recessive. |
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Term
| mma cardinal signs and inheritance? |
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Definition
| illness/stress -> vomiting, lethargy, dehydration, ketoacidosis. Autosomal recessive. |
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Term
| cardinal signs and inheritance of smith-lemli-opitz? |
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Definition
| cholesterol metabolism defect -> heart defects, cleft palate, polydactyly, genital defects, *****webbing between toes 2 and 3****, microcephaly. Autosomal recessive. |
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Term
| Wilson cardinal signs and inheritance? |
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Definition
| Liver (hepatitis), tremors, psychiatric symptoms (neurotic, personality disorder, etc.). ***BROWN EYE RING COMMON*** Autosomal recessive. |
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Term
| alport syndrome cardinal signs and inheritance? |
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Definition
Collagen IV - so eyes (lens shape), ears (hearing loss), and *****kidney problems (hematuria)********
X-linked |
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Term
| Duchenne muscular dystrophy cardinal signs and inheritance |
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Definition
| Limb weakness, calf hypertrophy, high cpk levels. X-linked |
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Term
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Definition
| Similar to hurler - coarse facial features, poor prognosis. Corneal clouding is infrequent. X-linked. |
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Term
| lesch-nyhan cardinal signs and inheritance? |
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Definition
| Hypoguanosine phosphoribosyl transferase definciency -> uric acid buildup. spacity and self-mutilation. X-linked. |
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Term
| Ornithine transcarbamylase cardinal signs and inheritance. |
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Definition
| lethargy, anorexia, seizures coma secondary to hyperammonemia. Carrier females may have episodic ammonemia. X-linked. |
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Term
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Definition
| Lack of T-cells, NK-cells. recurrent infections. |
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Term
| cardinal signs and symptoms of fetal alcohol |
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Definition
| face: flat filtrum, thinner upper lip than lower, short palpebral fissures |
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Term
| rett syndrome cardinal signs and etiology |
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Definition
| ***hands in midline and wrung, clapped, etc.**** Microcephaly, ataxia. Caused by methylation protein mutation. |
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Term
| ATR-X symptoms and etiology |
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Definition
| alpha thalassemia, hypotonia. X-linked gene does chromatin remodelling. |
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Term
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Definition
| Meiosis I non-segregation leads to trisomy and then trisomy rescue which results in disomy - offspring has the same genotype as one parent at all loci in the chromosome. |
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Term
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Definition
| Meiosis II non-segration in one parent leads to trisomy and trisomy rescue resulting in offspring having two copies of one a parents chromosomes and none of the other parent's homologous chromosomes. |
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Term
| Which genes are lost in prader willi syndrome? |
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Definition
| Paternally expressed genes in the 15q11-q13 region (centromeric) |
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Term
| Which genes are lost in angelman syndrome? |
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Definition
| maternally expressed genes |
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Term
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Definition
| trunkal obesity, genital hypoplasia, short stature, CI |
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Term
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Definition
| microcephaly, ataxia, aphonia, laughter, sleep disturbances |
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Term
| What are cardinal signs/ inheritance of beckwith wiedemann syndrome? |
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Definition
| omphalocoele, hemihypertrophy, |
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Term
| What is the difference between familial and hereditary cancer? |
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Definition
familial = cluster of similar cancers - more complex (multivariate) inheritance
hereditary = germline inheritance, high penetrance |
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Term
| What is the philadelphia chromosome? |
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Definition
| fusion of 9 and 22 - creates an ABLE gene with a BRCA promoter - TK is constitutively transcribed. |
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Term
| What is the philadelphia chromosome? |
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Definition
| fusion of 9 and 22 - creates an ABLE gene with a BRCA promoter - TK is constitutively transcribed. |
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Term
| What sort of DNA do mismatch repair proteins usually repair? |
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Definition
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Term
| What sorting of testing is appropriate for lynch syndrome? |
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Definition
Microsatellite analysis - stable number of repeats in all cells of the chromosome rules out, because the mutated protein is a mismatch repair.
Immunohistochemistry: look for all 4 mismatch repair proteins. |
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Term
| What are the screens on the 1st trimester screen panel? |
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Definition
| HCG, NT, PAPP-A - these are trisomy screeners |
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Term
| Screens on 2nd trimester panel? |
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Definition
| AFP, HCG, Inhibin A, estriol. Screens for trisomies and open neural tube defect risks. |
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Term
| What is the difference between a soft marker and a diagnosis on ultrasound? |
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Definition
Soft marker - screen not expected to cause morbidity.
Diagnosis - malformation/deformation/etc. visible |
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Term
| What is the dif. between presymptomatic and predispositional testing? |
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Definition
| Screening in a non-affected person for either increased risk (<100% penetrance) or ~definite risk (100% penetrance) of a genetic disease. |
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Term
| hungtington disease symptoms and inheritance? |
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Definition
| movement, psychiatric disturbance, dementia, onset after 0 (unless super-expanded repeat). Paternal expansion (coding region) |
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Term
| Which trinucleotide repeats are more likely to expand maternally than paternally? |
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Definition
| Repeats in non-coding regions |
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