Rush Chromosomal Disorders

Question 1

euploid

Answer 1

22 pair aytosomes
1 pair sex chromosome

Question 2

aneuploid

Answer 2

any disorder in chromosome number

Question 3

failure in homologous chromosome or sister chrimstids tinseoarate during cell dicision

Answer 3

non disjunction

Question 4

one homologous chromosome or one chromatid is left out in cell ncleus

Answer 4

anaphase lag

Question 5

errors in gametoenesis

Answer 5

non disjunction
anaphase lag

Question 6

errors in post fertilization

Answer 6

mosaicism

Question 7

two or more population ot cells w diff chromosomal complement in one indiv

Answer 7

mosaicism

Question 8

nondisjunction 95%
robertsonian translocation 4%
mosaiscm 1%

Answer 8

trisomy 21

Question 9

characteristics of trisomy 21 or down syndrome

Answer 9

brushfield spots
simian crease

Question 10

other names for trisomy 18 and 13

Answer 10

T18 edwards
t13 patau

Question 11

cause of edwards and patau

Answer 11

nondisjunction of chromosome in meiosis

Question 12

charactersitics of edwards and patau

Answer 12

cleft palate (edwards)
rocker bottowm feet
less muscle tone low set ears
heart ling ambnormalities

Question 13

one of most common genetic dx with sex chromosome and male hypogonadism

Answer 13

kleinfelter syn

Question 14

chrimosome defect if kleinfelter

Answer 14

> or equal 2 X
or equal Y

Question 15

most common amount of x and y in kleinfelter

Answer 15

XXY (90%)

Question 16

kleinfelter features

Answer 16

small testis
tall
gynecomastia
retardation

Question 17

caused by deletion of short arm 5 (5p-)

Answer 17

cri du chat or le jeune’s synd

Question 18

characterisjtc if cri du chat

Answer 18

mental retard
microcephaly
catlike cry

Question 19

defect in turner syndrome

Answer 19

complete or partial monosomy if X chromosome

Question 20

clinical features of turner syndrome

Answer 20

female hypogonadism
webbed neck

Question 21

cardiovascular characteristics of turner

Answer 21

preductal CoA ***
bicuspid aortic valve
aortic root dilation
aortic dissection

Question 22

cardiovascular characteristics of turner

Answer 22

duplication of collecting system
hydroneohrosis
horeshoe kidney ***

Question 23

two mutations of trinucleotide repeat dx

Answer 23

fragile x - loss function
huntingtons - gains function

Question 24

anticipation for trinucleotide repeat

Answer 24

worsens each generation

Question 25

what gender is fragile x and huntingtons

Answer 25

female fragile x male huntingtons

Question 26

defect in fragile x

Answer 26

CGG expansion FMR1 Gene (X)

Question 27

manifeststion of frag x

Answer 27

long face intellect disability large mandible and ears macro orchidism

Question 28

nueropsychiatric manifestation if frag x

Answer 28

aggressive anxiety or OCD epilepsy autism

Question 29

defect for huntjngtons

Answer 29

CAG expansion on HTT gene (Chromosome 4)

Question 30

neurodegenerative disorder of cortical and striatial neurons

Answer 30

huntingtons