Human Genetic Disorders Flashcards Preview

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Flashcards in Human Genetic Disorders Deck (22)
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1

albinism

autosomal recessive, absence of pigmentation

2

blue offspring

autosomal recessive,bright blue skin coloration

3

cystic fibrosis

autosomal recessive, excessive gladular secretions

4

Ellis-van Creveld Syndrome

autosomal recessive, extra fingers etc

5

Fanconi anemia

autosomal recessive, physical abnormalities, bone marrow failure

6

Galactosemia

autosomal recessive, brain, live, eye damage

7

Phenylketonuria (PKU)

autosomal recessive, mentail impairment

8

Sickle-cell anemia

autosomal recessive, adverse ploetropic effects on organs

9

achondroplasia

autosomal dominant, dwarfism

10

Camptodactyly

autosomal dominant, rigid bent fingers

11

Familial Hypercholesterolemia

autosomal dominant, high scholesterol in blood

12

Huntingtons Disease

autosomal dominant,pregrossive nerve degeneration

13

Marfan Syndome

autosomal dominant, abnormal/no connective tissues, large extremeties, concaved chest

14

Polydactyly

autosomal dominant, extra fingers/toes

15

Progeria

autosomal dominant, drastic premature aging

16

Neurofibromatosis

autosomal dominant, tumors of nervous system, skin

17

Androgen insensitivty syndrome

X-linked recessive, XY individual but with femal traits/sterile

18

Color blindness

X-linked recessive,

19

Fragile X syndrome

X-linked recessive,mental impairment

20

Muscular dystrophies

X-linked recessive,progressive loss of muscle function

21

X-Linked Anhidrotic dysplasia

X-linked recessive, Mosaic skin (patches with or without sweat glands)

22

Down Syndrome: Trisomy 21

Changes in chromosome number,mental impairment