3314137
Description
Flashcards by Jessica Margaux Mercado, updated more than 1 year ago
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Created by Jessica Margaux Mercado
over 8 years ago
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| Question | Answer |
| Chronic Myelogenous Leukemia (mutation?) | Philadelphia chromosome t(9;22) ABL, BCR |
| Burkitt's Lymphoma (mutation?) | t(8;14)(q24) |
| Cause of Trisomy 21 | Meiotic non-disjunction t(21,22 or 14) Mosaic |
| oblique palpebral fissures, flat facial profile, epicanthic folds, dysplasitc ears, protruding tongue, abundant neck skin, flat nasal bridge; (-) Moro reflex, muscle hypotonia; simian crease, short broad hands, hypoplasia of middle phalanx, gap bet 1st and 2nd toe | Trisomy 21 |
| associated CHD (endocardial cushion: ventricular/atrial septal defects); esophageal atresia, small bowel stenosis, imperforate anus; acute leukemia; premature Alzheimer's; dec immune response | Trisomy 21 |
| prominent occiput, micrognathia, short neck, overlapping fingers, rocker bottom feet | Trisomy 18/Edward's |
| microcephaly, micropthalmia, cleft lip & palate, polydactyly, rocker bottom feet | Trisomy 13/Patau's |
| Chromosome 22 Deletion Syndrome: where is the deletion? | 22q11.2 |
| thymic hypoplasia, parathyroid hypoplasia, cardiac manifestations, absence of T-cells, prone to viral infection; hypocalcemia --> seizures, cyanosis, tetany | DiGeorge Syndrome |
| facial dysmorphism: small & sharp chin, small mouth w/ slightly everted uppr lip, long nose w/ prominent tip; cardio abnormalities, learning disabilities, high arch palate; mental retardation | Velocardiofacial Syndrome |
| 47XXY, 48XXXY | Klinefelter's |
| 45XO, 46XXp- or q- | Turner's |
| hypogonadism in phenotypic females | Turner's |
| Turner's: high postnatal mortality, do not live to adulthood (chromosomal pattern?) | 45, XO |
| Turner's: defective 2nd X chromosome (chromosomal pattern?) | isochromosome: 46Xi(X)(q10) ring chromosome: 46Xr(X) deletion: 46Xq-, 46Xp- |
| Turner's: do not completely express classical phenotype (chromosomal pattern?) | Mosaicism 45X/46XX, 45X/46XY, 45X/47XXX, 45X/46Xi(X)(q10) |
| short stature, 1˚ amenorrhea, infertility, webbing of neck, chubby appearance, lymphedema, broad chest, wide spaced nipples, low post hairlines, pigmented nevi, coarctation of aorta | Turner's |
| Klinefelter's: classic case (chromosomal pattern?) | 47XXY |
| Klinefelter's: mosaic patterns? | 46XY/47XXY 47XXY/48XXXY more X chromosome = inc mental retardation |
| testicular atrophy, azoospermia, gynecomastia, female dist. of hair, tendency to mental retardation, euchonoid body habitus w/ abnormally long legs | Klinefelter's |
| phenotypic male; inc incidence of type II DM, metabolic syndrome, breast cancer, extragonadal germ cell tumors, autoimmune dis,, SLE | Klinefelter's |
| phenotypically normal males; excessively tall, prone to acne | 47XYY; Double Y Males |
| phenotypically normal females; tendency to mental retardation; amenorrhea, menstrual irregularities | Multiple X Females |
| presence of both ovarian and testicular tissue | True Hermaphrodite Mosaics: 46XX, 46XY |
| divergent gonadal vs phenotypic sex | Pseudohermaphrodite |
| normal internal genitalia, ambiguous external genitalia; no vagina/uterus, short penis, congenital adrenal hyperplasia | Female Pseudohermaprhodite; mother exposed to high androgenic stimulation |
| gonads are exclusively testes, external genitalia are either ambiguous or completely female | Male Pseudohermaphrodite; defective virlization of male embryo |
| Complete androgen insensitivity syndrome, testicular feminization (mutation at what chromosome?) | Xq12 (encodes androgen receptor) |
| deficiency in Marfan's Syndrome | fibrillin (framework of elastin) |
| unusually tall, long & tapering extremities, arachnodactyly, dolichocephalic, bossing of frontal eminences, prominent supraorbital ridges, spinal deformities, pectus excavatum, loose jointed, loose skin | Marfan's Syndrome |
| ectopia lentis, severe myopia, retinal detachment | Marfan's Syndrome |
| mitral valve prolapse, cystic medionecrosis -> aortic dissection, aortic dilation, aortic insufficiency | Marfan's Syndrome |
| defect in Ehler's-Danlos Syndrome | fibrillar collagen, usually small vessels of skin |
| inheritance of Marfan's | autosomal dominant w/ variable expression |
| usual clinical manifestation of Ehler's-Danlos Syndrome | easy bruisability |
| EDS: skin & joint hypermobility, atrophic scars, easy bruising (specific type, gene defect?) | Classic (I/II) COL5A1, COL5A2 |
| EDS: joint hypermobility, pain, dislocations (specific type?) | Hypermobility (III) |
| EDS: thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility (specific type, gene defect?) | Vascular (IV) COL3A1 |
| EDS: hypotonia, joint laxity, congenital scoliosis, ocular fragility (specific type, gene defect?) | Kyphoscoliosis (VI) Lysyl hydroxylase |
| EDS: severe joint hypermobility, miid skin changes, scoliosis, bruising (specific type, gene defect?) | Arthrochalasia (VIIa,b) COL1A1, COL1A2 |
| EDS: severe skin fragility, cutis laxa, bruising (specific type, gene defect?) | Dermatosparaxsis (VIIc) Procollagen N-peptidase fuck hindi pala kailangan imemorize hay dios mio natype ko na whatever |
| inheritance of EDS; all are autosomal dominant except? | Kyphoscoliosis (VI) and Dermatosparaxsis (VIIc) = autosomal recessive |
| xanthoma formation, atherosclerosis | Familial Hypercholesterolemia |
| inheritance of Familial Hypercholesterolemia? | autosomal dominant |
| Familial Hypercholesterolemia: mutations? | level of: receptors, transport of receptor, binding, formation of vesicles, release of cholesterol |
| defect in Albinism? | synthesis of melanin; tryosinase |
| increased sensitivity to solar exposure (prone to wrinkles, squamous cell carcinoma, basal cell carnioma, solar keratosis); impaired visual acuity | Albinism |
| defect in Alkaptonuria (Ochronosis)? | lack of homogentisic oxidase = inc homogentisic acid |
| brittle cartilage, degenerative arhtropathy, blue-black staining of connective tissue | Alkaptonuria (Ochronosis) |
| glycogenosis: hepatomegaly, renomegaly; hypoglcemia, hyperlipidemia, hyperuricemia, seizures | Von-Gierke's (hepato-renal form) Type I |
| enzyme involved in Von-Gierke's? | glucose-6-phosphatase |
| glycogenosis: muscle cramps after exercise | McArdles (myopathic form) Type V, VI |
| enzyme involved in McArdles? | glycogen phosphorylase |
| glycogenosis: cardiomegaly | Pompe's (generalized glycogenosis) Type II |
| enzyme involved in Pompe's? | lysosomal acid maltase |
| Tay-sachs: enzyme deficient? accumulation? | hexosaminidase ganglioside |
| ballooned neurons, cytoplamsic vacuoles, whorled configuration w/in lyososomes; cherry red spot; progressive motor & mental retardation | Tay-sachs |
| Niemann-Pick: enzyme deficient? accumulation? | sphingomyelinase sphingomyelin |
| deficiency in sphingomyelinase; progressive neurologic involvement, marked visceral enlargement, death in 3yrs | Niemann-Pick Type A |
| deficiency in sphingomyelinase; organomegaly w/o CNS involvement | Niemann-Pick Type B most common |
| defect in transport of cholesterol; still birth, neonatal hepatitis, or chronic neurologic damage | Niemann-Pick Type C |
| foam cells in liver/spleen | Niemann-Pick |
| Gaucher's: enzyme deficient? accumulation? | glucocerebrosidase glucocerebroside |
| chronic, non-neuropathic; involves skeletion & spleen; decreased activity of glucocerebrosidase | Gaucher Type 1 |
| infantile acute cerebral pattern; complete absence of glucocerebrosidase | Gaucher's Type 2 |
| intermediate activity of glucocerebrosidase | Gaucher's Type 3 |
| crumpled tissue paper foamy cells | Niemann-Pick |
| Fragile-X Syndrome: mutation? | FMR1 |
| Fragile-X Syndrome: fragiles sites located? | long arm of X; seen as discontinuity in staining or constrictions |
| mental retardation (IQ 20-60), autistic-like manifestations, long narrow face w/ large mandible, large everted ears, macroorchidism | Fragile-X Syndrome |
| Prader-Willi Syndrome mutation? | PATERNAL deletion in chromosome 15 (q11-13) |
| infertility, sparse pubic hair, pathologic obesity, hypotonia, learning disabilities, borderline intellectual capacity, prone to DM & hypogonadism | Prader-Willi Syndrome |
| Angelman Syndrome mutation? | MATERNAL deletion in chromosome 15 (q11-13) |
| impairments in hippocampal memory, intellectual & developmental delay, sleep disturbance, seizures, jerky movements, inappropriate laughter | Angelman Syndrome |
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