Human Genetic Disorders Flashcards
albinism
autosomal recessive, absence of pigmentation
blue offspring
autosomal recessive,bright blue skin coloration
cystic fibrosis
autosomal recessive, excessive gladular secretions
Ellis-van Creveld Syndrome
autosomal recessive, extra fingers etc
Fanconi anemia
autosomal recessive, physical abnormalities, bone marrow failure
Galactosemia
autosomal recessive, brain, live, eye damage
Phenylketonuria (PKU)
autosomal recessive, mentail impairment
Sickle-cell anemia
autosomal recessive, adverse ploetropic effects on organs
achondroplasia
autosomal dominant, dwarfism
Camptodactyly
autosomal dominant, rigid bent fingers
Familial Hypercholesterolemia
autosomal dominant, high scholesterol in blood
Huntingtons Disease
autosomal dominant,pregrossive nerve degeneration
Marfan Syndome
autosomal dominant, abnormal/no connective tissues, large extremeties, concaved chest
Polydactyly
autosomal dominant, extra fingers/toes
Progeria
autosomal dominant, drastic premature aging
Neurofibromatosis
autosomal dominant, tumors of nervous system, skin
Androgen insensitivty syndrome
X-linked recessive, XY individual but with femal traits/sterile
Color blindness
X-linked recessive,
Fragile X syndrome
X-linked recessive,mental impairment
Muscular dystrophies
X-linked recessive,progressive loss of muscle function
X-Linked Anhidrotic dysplasia
X-linked recessive, Mosaic skin (patches with or without sweat glands)
Down Syndrome: Trisomy 21
Changes in chromosome number,mental impairment
