Term
| The result of most chromosomal trisomies/ monosomies |
|
Definition
| spontaneous abortion except in syndromes listed. |
|
|
Term
|
Definition
| Patau syndrome. profound mental retardation. congenital heart defects, cleft lip and palate, omphalocoele, and polydactyly (6 toes in pic). very short life span. (PPPuberty) |
|
|
Term
|
Definition
| Edward's syndrome. characterized by mental retardation, congenital heart defects, small facies and prominent occiput, overlapping fingers. ROCKERBOTOM HEEELS. die soon after birth. 1/8000. micrognathia. low set ears. clenchd hands. (EEElection) |
|
|
Term
|
Definition
| moderate mental retardation (leading cause of inherited mental retard). flat facies, prominent epicanthal folds,simian crease. duodenal atresia.congenital heart disease: septum primum type ASD). risk of ALL at all ages and alzheimers. 1-1500 at age 20 1:25 at 45. 4% of acases due to robertsonian translocation: 14:21. DSCR- down syndrom critical region with sim2, p60 etc. 1% to mosaic= not maternal. see less AFP and more B-hCG. less estriol and more inhibin A. ultrasound shows more nuchal translucency. (DDDrinking) |
|
|
Term
|
Definition
| xxy. found in males and characterized by varicose veins, arterial and venous leg ulcers. scant body and pubic hair. serility: atresia/ fibrosis of semineferous tubules. less testerone. gynecomastia, dull mentality. antisocial behavior. delayed speech. look like eunuch. prsence of inactivated X chromsome. common cause of hypgonadism seen in infertility workup. abnormal leydig cell function less testesterone and more estogen, hence gynecomastia. lots of FSH because of no inhibin from tubules/ spermatogensis. |
|
|
Term
|
Definition
| Short stature. Neck webbing. ptosis. low hairline. hypplasia fo lymphatics. sheild chest. pin point nipples. congenital heart defects, aortic coarction. female hypogonadism and ovarian fibrous streaks. (infertility) most common cause of primary amenhorea. elevated LH and FSH due to very little estrogen. |
|
|
Term
| Difference between microdeletion and deletion |
|
Definition
| microdeletion can only be picked up on high resolution banding |
|
|
Term
|
Definition
| chromsome 4p deletion. prominent forehead, broad nasal root. short philtrum downturned mouth. severe mental retardation and growth retardation. greek warrior helmet |
|
|
Term
|
Definition
| 5p deletion. round facies, a cat like cry. congenital heart defects: VSD. microcephally. mental retard |
|
|
Term
|
Definition
| mild dysmorphic features, frequent seizures and variable mental retardation |
|
|
Term
|
Definition
| microdeletion on long arm of 15. derived from father. insatiable appetite. hyptonia. short stature. rage/violence. mild to moderate mental retardation. genomic imprinting, matters which parent you get your gene from. has to do with dna methylation of cystosine nucleotides during gametogenesis. PPPaternal. |
|
|
Term
|
Definition
| happy puppet. mentalretardation, seizures, ataxia. |
|
|
Term
|
Definition
| deletion of normally active allele, so the other is methylated or whatever. Prader-willi/ angleman are the ones to know |
|
|
Term
|
Definition
| microdeletion on chromsome 22qll. variable presentation. CATCH-22: cleft palate, abnormal facies, thymic aplasia- t cell defficenciey, cardiac defecs, Hypcalcemia 2ndary to parathyroid aplasia. Digeorge: thymic, parathyroid and cardiac defects. Velocardiofacial syndrome- palate, facial, and cardiac defects. all of this is due to aberrant development of 3rd and 4th branchial pouches. |
|
|
Term
|
Definition
| micro deletion on 17q13. MD is characterized by lissencephaly, microcephaly. death ocurs early. LIZARD BRAIN OMG. |
|
|
Term
|
Definition
| micro deletion on 11p13: WT1 gene. WT encodes a WT1 zinc finger dna-binding protein taht is required for ebryologic develpment of genito urinary system. Wilms tumor. Aniridaa (absncece of iris), genitourinary abnormalities, Retard. example of continuous gene syndrome |
|
|
Term
|
Definition
| congenitalmicrodeltion of long arm of chromsome 7. delted region includes elastin gene. eifin facies. retardation. well developed verbal skills. cheerful. friendliness with strangers. cardiovascular problems. |
|
|
Term
| Robertsonian Translaocation |
|
Definition
| non reciprocal chromsomaal translocations that invovle 13, 14,15 and 21. occurs when long arms of 2 acrosentric chromsomes fuse, and 2 short arms are lost. balanced translocations do not cause abnormal phenotype. unblanced can result in misscariage still birth an chromsomal imbalance. |
|
|
Term
| unstable exanding repeat mutation generalities |
|
Definition
| have threshold length, where they become unstable and start expanding generation to generation and causing sucessively more severe diseases. |
|
|
Term
|
Definition
| repeat of CGG. affects FMR1 gene. X-linked recessive. mental retardation (most severe in males) macrochidism, speech delay, behaviorl problems, prominent jaw, large ears. autism. large testes, jaw, ears. Xtra large even. |
|
|
Term
|
Definition
| 200-1700 unstable repeat of GAA. gene encodees frataxin a mitochondrial protein that is an antioxident. FA is characterized by dengeration of posteriod columns and spinocerebellar tractss. loss of sensory neurons, ataxisa, optic atrophy. |
|
|
Term
|
Definition
| CTG in DM1 gene. audostomal dominant. DM1 is a serine threonine protein kinase. DM1 is characterized by motonia (delayed msuclerelaxation after contraction) cataracts. cardiomyopathy. endocrinopathies. low 9intelligence/ dementia. |
|
|
Term
|
Definition
| unstabelr epeat disorder. leads to ataxia. cerebellar ataxia. speech problems. |
|
|
Term
|
Definition
| 26-100. unstable repeat of CAG. Autosomal dominant repeat on 4p16. protein is huntingin. lesion is in caudate nucleus. you lose gaba nergic neurons. enlarged laeral ventricles on ct. CAG CCCaudate loses AAAch GGGaba. |
|
|
Term
|
Definition
| CAG repeat. X linked recessive. Androgen receptor effected. you lose motor function. you get late onset gynecomastiea. defective spermatogenesis. |
|
|
Term
|
Definition
| autosomal recessive disorder. affected individuals are hypersensitive to radiation. cerebellar ataxia with depletion of purkinye cells. nystagmus. DNA recombination repair enzymes are defective. |
|
|
Term
|
Definition
| most common form of congenital aplastic anemia. associated wit hcafe au lait spots hypogaonadislism renal malformations etc. |
|
|
Term
|
Definition
| autosomal recessive genetic disorder. immuno dificnecy. ashakanazi jews. blm gene. butterfly telantctasias. |
|
|
Term
|
Definition
| autosomal recessive defect in CFTR. cftr actively secretes cl in lungs and gi tract reabsorbs CL from sweat. less ecretoin results in thick mucus that plugs lungs panc and liver. recurrent pulmonary infections with pseudomonas and taph a. chronic bronchitis/ bronchietctis. pancretic insufficency: steatorrhea and malabsortion. meconium illeus in new borns. infertility in males due to bilateral absence of vas deferens. fat soluble vitamins. More cl in sweat test is diagnostic. treatment= nacetylcystine to loosen mucous plugs, which cleaves disulfide bonds w/in mucous glycoproteins. |
|
|
Term
| duchenne's muscular dystrophy |
|
Definition
| x linked frmae shift mutations leads to the deletion of the dystorphin gene, which leads to accelerated muscle break down due to weak membranes in muscheles. weakness begins in pelvic girdle and procedes superiorly. pseudohypertophy of calf muscles due to fibrofatty rplacement. cardiac myopathy. gower's manuver. dystrophin gene is really long so spontaneous mutations happen. |
|
|
Term
|
Definition
| X-linked murated dystophin, less severe than duchenne's onset in adolenxce or early adulthood. u dx muscle dystrophe's by elevated CPk and muscle biopsy. |
|
|
