Large Genomic Changes

Question 1

Incidence of down syndrome increases

Answer 1

As maternal age rises

Question 2

Facial characteristics of down syndrome

Answer 2

Epicanthal folds
Flat nasal bride
3 FAS symptoms
Upturned nose

Question 3

Type 1 epicantah lfold

Answer 3

Full exposure…no fold in this type

Question 4

Type 2 epicanthal fold

Answer 4

Partially covers lacrimal lake…joins skin at margin of lacrimal lake

Question 5

Type 3 epicanthal fold

Answer 5

Lake and caruncle covered almost completely…round medial papebral fissures…lower lid curves to blend in with lower skin

Question 6

Type 4 epicnathal fold

Answer 6

Reversed epicnathal fold…originates from lwoer eyelid and blends in with upper eyelid skin

Question 7

Toes - down syndrome

Answer 7

Larger gap between big toes and other four toes

Question 8

Down syndrome pathology to brain and lens

Answer 8

Increased APP gene dosage…increase aBeta peptide…

In brain, increased Abeta accumulation leads to neuropathology and defects

In lens, increased ABeta leads to protein aggregation, which causes light scattering, leads to supranuclear cataracts

Question 9

Edwards Syndrome…what does it affect?

Answer 9

Trisomy 18

Kidney, heart, CNS

Question 10

Prognosis of Edwards syndrome

Answer 10

Most die in utero

Question 11

How Edwards diagnosed

Answer 11

US, or via alpha-fetoprotein

Question 12

Quad screening test evaluates which 4 things

Answer 12

AFP, uE3, HCG, DIA

Question 13

Quad screening not definitive for

Answer 13

Trisomy 13

Question 14

Chromosome number diseases typically result of

Answer 14

Non-disjunction of chromosomes during meiosis 2

Question 15

Edwards syndrome presentation

Answer 15

Small head
No eyebrows
Malformed ears 
Cleft palate 
Clenched hands and polydactyly 
Testes undescended

Question 16

Klinefelter syndrome

Answer 16

47, XXy

Males with extra X

Question 17

Turneer syndrome

Answer 17

45, X

Lack an X (barr body)0

Question 18

Management of Turner Syndrome

Answer 18

Specialty follow-up
Growht hormone therapy
Estrogen replacement to prevent bone degradation and encourage feminizaqtion

Question 19

Turner syndrome symptoms

Answer 19

Neck skin folds (surgery)

Less developed breats and ovaries

Question 20

Klinefelter syndrome breast effect

Answer 20

Gynecomastia…will have glandular tissue on breast…can have liposuction

Question 21

Klinefelter syndrome tx

Answer 21

Testosterone supplementation

Question 22

Klinefelter syndrome reporudction

Answer 22

Cannot father by natural means…can isolate sperm via other means

Question 23

2 major types of chromosomal translocation events

Answer 23

Reciprocal and robertsonian

Question 24

What kind of translocations are philadelphia chromosome and Burkett’s lymphoma?

Answer 24

Reciprocal

Question 25

Reciprocal vs robertsonian translocation

Answer 25

Reciprocal - between non-homologous chromosomes

Robertsonian - fusion of long arms of two chromosomes

Question 26

Quad screening test - Downsyndrome

Answer 26

AFP and uE3 down

HCG and DIA up

Question 27

Quad screening test - Edwards

Answer 27

All down

Question 28

Quad screening test - Patau

Answer 28

Non conclusive but AFP down

Question 29

NTD, omphalocele, gastroschisis, multiple gestation - Quad screening test

Answer 29

AFP increase