Weird names (done perman)

Question 1

intestines protrude thru ab @ umb cord; goes back to norm at 11th wk

Answer 1

om phalo cele

Question 2

when lay fingers flat on table, one finger doesn’t straighten out; it is always curved

Answer 2

clino-dac-ty-ly

Question 3

distance bt eyes is ab

Answer 3

hypo/hyper telo-rism

Question 4

head is weirdly slanted

Answer 4

Plagio-cephaly

Question 5

tongue obstruction of airway

Answer 5

gloss-op-tosis

Question 6

infection teratogen where baby has blindness

Answer 6

cyto megalo virus

Question 7

retinoid medication

Answer 7

Iso tret noin

ac cu tane

Question 8

missing the outer ear

Answer 8

a notia

Question 9

mother takes anti ep med - baby gets

Answer 9

fetal hydantoin syndrome

Question 10

anti e med

Answer 10

phenytoin/dilantin

Question 11

blindness in half the visual field

Answer 11

hemianopia

Question 12

Dr Kelly of FDA blocked sale of this morning sickness drug in US

Answer 12

Tha li do mide

Question 13

other name for Gleevec

Answer 13

i ma ti nib

Question 14

one disease (not obvious) that causes hypotonia

Answer 14

Tay Sachs

Question 15

prader willi syndrome has TWO mec - name them

Answer 15

paternal 15 q del

less common: mat UPD

Question 16

yellow sclera (jaundice) name

Answer 16

icterus

Question 17

you use FISH to detect breast cancer - what exactly are you detecting

Answer 17

her2-neu

Question 18

Cystic fibrosis -> pancreatic enzyme not released -> what test detects this

Answer 18

IRT (trypsin)

Question 19

absence of testes

Answer 19

cryptorchidism

Question 20

in homozygote familia hyper cholesterolemia, symptom is

Answer 20

xanthoma (lipid deposit)

read: hetero is heart disease

Question 21

another name for 22q11

Answer 21

DiGeorge syndrome

Question 22

22q11
other than 
-Fallot 
-hypocalcemia 
-weak thymus 

LAST SYMPTOM (new)

Answer 22

VCF (velocardiofacial = telling you about possible symptoms)

Question 23

fragile x syndrome - def is in what gene

Answer 23

FMR gene -> leads to CGG triplet expansion

Question 24

granuloma consists of

Answer 24

macrophages gathered together

Question 25

horse-shoe, giant cell in TB - called what

Answer 25

Langhan

Question 26

hole in eye name

Answer 26

coloboma

Question 27

cystic fibrosis G551 mut - treat with what drug

Answer 27

kaly deco