Patterns of Inheritance for Some Genetic Abnormalities and Disorders

Table 141 Patterns of Inheri ante for Some Genetic Disorder or Abnormality Main symptoms Autosomal dominant inheritance pattern Acnondropiasia one iorm oi dwariism Aniridia Deiects oi tne eyes camptodactyiy Rigid, cent iingers Famiiiai nypercnoiesteroiemia Hign cnoiesteroi ievei, ciogged arteries Huntington‘s disease Degeneration oi tne nervous system Marian syndrome Aonormai or missing connective tissue Poiydactyiy Extra iingers, toes‘ or ootn Progeiia Drastic premature aging Heuroiioromatosis Tumors oi nervous system, sHin Autosomai recessive inheritance pattern Aioinism Aosence oi pigmentation Hereditary metnemogiooinemia Eiue sHin coioration cystic iiorosis Aonormai gianduiar secretions ieading to tissue and organ damage Eiiisvan creveid syndrome Dwarflsm‘ nean deiects, poiydactyiy Fanconi anemia Physicai aonormaiities, marrow iaiiure Fiiedieich's ataxia Progressive ioss oi motor and sensory iunction Gaiactosemia Drain, iiven eye damage Hereditary nemocnromatosis iron overioad damages joints organs Phanyikeionuiia (Wu) Mentai impairment Sickierceii anemia Anemia, adverse pieiotropic eiiects Tayasachs disease Deterioration oi mentai and pnysicai apiiitiesi eariy deatn X-linked recessive inheritance pattern Androgen insensitivity xv individuai out naving some syndrome iemaie traits steriiity Hedgreen coior oiindness inaoiiity to distinguisn red irom green Hemopniiia impaired oiood ciotting aoiiity Muscuiar dystropnies Progressive ioss oi muscie iunction Xriinked annidrotic dyspiasia Mosaic sHin (patcnes witn uiwimr out sweat giandsi otner iii eiiects X-linked dominant inheritance pattern Fiagiie X syndrome inieiiactuai‘ emotionai disaoiirty incontinentia pigmenti Aonormaiities oiskin‘ nain teetn, naiisi eyes‘ neuroiogicai prooiems Changes in chromosome number Down syndrome Mentai impairment nean deiects Tumarsyndioms ixo) steriiity aonormai ovaries, ssxuai traits i<iineieiter syndrome steriiity miid mentai impairment xxx syndrome Minimai aonormaiities xvv condition Miid mentai impairment or no eiiect Changes in chromosome structure cnronic myeiogenous overproduction oi wnite oiood ceiis, ieuHemia (cit/in organ maiiunctions Cnrdurchat syndrome Mentai impairment abnoimai iaiynx