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This Concept Map, created with IHMC CmapTools, has information related to: Genetic Disorders, Autosomal Dominant Genetic Disorders Nervous TUBEROUS SCLEROSIS, X-Linked Disorders Blood CHRONIC GRANULOMATOUS DZ, Autosomal Dominant Genetic Disorders Hematopoietic VON WILLEBRAND DZ, Autosomal Dominant Genetic Disorders Skeletal OSTEOGENESIS IMPERFECTA, X-Linked Disorders Nervous FRAGILE X SYNDROME -2nd MOST COMMON CAUSE of MR -macro-orchidism in post-pub males -long, repeating sequences of CGG in FMR1 DISCONTINUOUS STAINING PATTERN -ANTICIPATION-worse w/ each generation, Autosomal Dominant Genetic Disorders Skeletal EHLERS-DANLOS SYNDROME (some) -ABNL COLLAGEN -skin, ligas, jts lack tensile strength ->HYPEREXTENSIBLE SKIN, LAX JTS -poor healing of minor wounds -internal: BOWEL RUPTURE, Ao RUPTURE, CORNEA RUPTURE, RET DETACHMENT, DIAPHRAGMATIC HERNIA->resp problems, Autosomal Recessive Disorders Metabolic CYSTIC FIBROSIS, Autosomal Dominant Genetic Disorders Nervous MYOTONIC DYSTROPHY, X-Linked Disorders Metabolic LESCH-NYHAN SYNDROME, Autosomal Recessive Disorders Metabolic GALACTOSEMIA, Autosomal Dominant Genetic Disorders Nervous NEUROFIBROMATOSIS-defective T-Suppressor I-von Recklinghausen dz -nfibromas, Lisch nodules (iris hamartoma) -pigmented skin lesions (cafe au lait) -50% new mutations -skeletal defects (scolio), Wilms, CML, pheos, rhabdomyosarcomas -reduced IQ II-ACOUSTIC-bilateral acoustic Schwannomas, meningiomas, CNS gliomas/ependyoma -cafe au lait spots, no lisch nodules, Autosomal Recessive Disorders Metabolic HOMOCYSTINURIA, X-Linked Disorders Immune WISKOTT-ALDRICH SYNDROME, Cytogenetic Disorders Sex Chromosomes -not recognized til puberty -more Xs, more MR XYY SYNDROME -phenotypically NL male -NL IQ or rarely mild MR -excessively tall, severe acne -NOT ass'd w/ antisocial behavior, Autosomal Dominant Genetic Disorders Nervous HUNTINGTON DZ, Autosomal Recessive Disorders Metabolic LYSOSOMAL STORAGE DZS, Cytogenetic Disorders Sex Chromosomes -not recognized til puberty -more Xs, more MR XXY (82%)- KLINEFELTER -MALE HYPOGONADISM -no 2ndary sex characteristics -LONG LEGS, TALL -lower IQ, but not MR -more X => more MR -increased infertility, low testost reduced spermatogenesis -principal cause of infertility -can have gynecomastia, Cytogenetic Disorders Autosomes Mostly meiotic nondisjunction -increased maternal age All w/ MR, CARDIAC DEFECTS TRISOMY 21 (DOWN SYNDROME) -most common chrom d/o 1:700 -MR, EPICANTHIC FOLDS, FLAT FACE -OBLIQUE PALPEBRAL FISSURES -SIMIAN CREASE, UMBILICAL HERNIA -CHDs (40%), INTESTINAL STENOSIS -HYPOTONIA -Alzheimer's ᡠyo -ABNL immune responses, autoimmunity -predisposed to leukemia -gap b/w 1st, 2nd toe -AFP low, hCG high, uE3 low, X-Linked Disorders Musculoskeletal DUCHENNE MUSCULAR DYSTROPHY, GLYCOGEN STORAGE DZS To know: HEPATIC FORMS Type I - von Gierke -ass'd w/ G-6-Phosphatase Def -liver enlargement, hypoglycemia -accum in kidney too