Karyotype diseases

Question 1

What is the scientific name and nomenclature for Down Syndrome?

Answer 1

trisomy 21
47, XX + 21

Question 2

What is a clinical feature of down syndrome

Answer 2

Flattened facial profile

increased toe gap between 1st and 2nd toe

increased nuchal fold

Question 3

What makes Translocation Down Syndrome different?

Answer 3

Extra chromosome is translocated to a different chromosome rather than being separate

Question 4

Describe the cause of CRI-DU-CHAT

Answer 4

Deletion of short arm of Ch 5

Mieotic failure

10% inherit from a carrier parent with balanced translocation.

Question 5

Clinical
features of CRI-DU-CHAT

Answer 5

High pitched cry like a cat

down-slanted palpebral fissures (opening of eyelids slanting down)

Question 6

Causes of Wolf-Hirchhorn syndrome

Answer 6

Chromosomal deletion in meiotic failure on Ch4

Question 7

Scientific name for Edwards Syndrome

Answer 7

Trisomy 18

Question 8

Cause of Edwrads Syndrome

Answer 8

Chromosomal meiotic failure of Ch18

Non-disjunction

Question 9

Clinical features of Edwards syndrome

Answer 9

Clenched hand with Overlapping fingers

short sternum

rocker bottoms feet

Question 10

Cause of Fragile X syndrome

Answer 10

Mutation of FMRI gene which instructs FMRP to regulate production of proteins and development of synapses.

Incorrect DNA repair

X linked dominant pattern

Question 11

Clinical features of Fragile X syndrome

Answer 11

prominent jaw and forehead

unusually flexible fingers ‘flat feet

makes can have macroochidism after puberty (increase of testicluar volume)

Question 12

Fragile X karyotype

Answer 12

46Yfra(x)(q27.3)

Question 13

What is the karyotype nomeclature of Diplo-y?

Answer 13

47-XYY

Question 14

cause of Dipol-y

Answer 14

Meiotic failure

Non-disjunction in sperm cells

Question 15

Clinical features of Diplo-y

Answer 15

increased length vs width of:
-ears
-hands and fingers
-feet and toes

poor coordination

Question 16

Balanced translocational - karyotype

Answer 16

45X_der(14;21)(Q10:Q10)

Question 17

Clinical Features of Balanced Translocational

Answer 17

increased risk of Down Syndrome.

Question 18

CRI-Du-CHAT karyotype

Answer 18

46X_ del(5)(p15.3)

Question 19

Edwards syndrome karyotype

Answer 19

47, X_ + 18

Question 20

Klinefelter’s Syndrome main clincal feature

Answer 20

hypogenatalism
hypogonadism
hypospadis

gynecomastia

Question 21

Patau Syndrome - sci name and karyotype

Answer 21

trisomy 13

47,X_+13

Question 22

Pauta Syndrome clinical features

Answer 22

Polydactyly
(additional fingers or toes)

microphthalmia

cutis aplasia of scalp (section missing)

Question 23

Triple X karyotype

Answer 23

XXX

Question 24

Triple X clinical feature

Answer 24

development almost normal

clinodactyly (abnormally bent or curved fingers)

tendency for back problems

Question 25

triploidy karyotype and main clinical feature

Answer 25

69X_
Syndactyly of 3rd and 4th fingers
large placenta w hydatidiform changes
low nasal bridge

Question 26

Turner’s Syndrome karyotpe and clincal features

Answer 26

monosomy X and 45X

pterygium colli deformity (webbed neck)
low posterior hairline
broad chest

Question 27

Wolf-Hirschhorn syndrome karyotype

Answer 27

46, X_del(4)(p16.3)

Question 28

Balanced translocation vs translocation Down Syndrome karyotype.

Answer 28

BT= 45XY der (14;21)(q10;q10)
TDS = 46XY der (14;21)(q10;q10) + 21

Question 29

wolf-hirchhorn syndrome clinical features

Answer 29

broad or beaked nose

preauricular tag/pit (small skin tag on outside part of the ear)

Question 30

Jacobsen syndrome karyotype and clinical features

Answer 30

46XXdel(11)(q24)

broad nasal bridge
macrocephaly (head circumference is larger than 2 SDs)
most have paris-trousse syndrome (bleeding disorder)