Genetics Diseases Flashcards Preview

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Flashcards in Genetics Diseases Deck (24):
1

achondroplasia

FGF receptor

AD

2

marfan syndrome

fibrillin

AD

3

tuberous sclerosis

TSC1 or TSC2

AD

4

neurofibromatosis type 1 (NF-1)

NF1 = GTPase activating protein

AD

5

cystic fibrosis

CFTR active

AR

6

PKU

phenyalanine hydroxylase

AR

7

sickle cell

AA change in beta-globin chain

AR

8

hemophilia A

factor VIII gene

X-linked

9

duchenne muscular dystrophy

deletions in DMD

X-linked

10

alport syndrome

collagen gene

X-linked

11

ornithine transcarbamoylase deficiency

error in urea cycle

x-linked

12

MELAS

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

mutation in mito tRNA gene

mitochondiral disorder

13

kearn-sayre disease

deletion of part of mito genome

muscle weakness
cerebellar damage
HF

14

MERRF

MERRF syndrome (or myoclonic epilepsy with ragged red fibers)

mutation in mito tRNA gene

ragged fibers

15

patau

trisomy 13

cleft lip and palate

severe nervouse

polydactyly 1/10,000

16

edward syndrome

trisomy 18

CNS

heart defects

1/6,000

17

down syndome

trisomy 21

hypotonia

developmental delay

mental retard

heart

1/800

18

turner syndome

45, X

short

amenorrhea

lack of secondary sex

1/5,000

19

klinefelter syndrome

47, XXY

small testes
infertile
tall
learning issues
1/1,000

20

triple X

47, XXX

learning issues
no major physical shit
1/1,000

21

XYY

paternal nondisjunction

learning and behavioral issues
more aggressive
1/1,000

22

prader willi

15q11 paternal deletion

hypotonia
eating disorder
obesity
mental retard

example of paternal imprinting
- dad's copt is missing or there are 2 of mom's copies

23

angelmann

15q11 maternal deletion

hypotonia
seizures
inappropriate laughter
no coordinated

mom's copy is missing or there are 2 of dad's

24

DiGeorge

22q11 deletion

congenital heart defect

hypoplasia of parathyroid and thyroid

facial abnormalities