Weird names (done perman) Flashcards
intestines protrude thru ab @ umb cord; goes back to norm at 11th wk
om phalo cele
when lay fingers flat on table, one finger doesn’t straighten out; it is always curved
clino-dac-ty-ly
distance bt eyes is ab
hypo/hyper telo-rism
head is weirdly slanted
Plagio-cephaly
tongue obstruction of airway
gloss-op-tosis
infection teratogen where baby has blindness
cyto megalo virus
retinoid medication
Iso tret noin
ac cu tane
missing the outer ear
a notia
mother takes anti ep med - baby gets
fetal hydantoin syndrome
anti e med
phenytoin/dilantin
blindness in half the visual field
hemianopia
Dr Kelly of FDA blocked sale of this morning sickness drug in US
Tha li do mide
other name for Gleevec
i ma ti nib
one disease (not obvious) that causes hypotonia
Tay Sachs
prader willi syndrome has TWO mec - name them
paternal 15 q del
less common: mat UPD
yellow sclera (jaundice) name
icterus
you use FISH to detect breast cancer - what exactly are you detecting
her2-neu
Cystic fibrosis -> pancreatic enzyme not released -> what test detects this
IRT (trypsin)
absence of testes
cryptorchidism
in homozygote familia hyper cholesterolemia, symptom is
xanthoma (lipid deposit)
read: hetero is heart disease
another name for 22q11
DiGeorge syndrome
22q11 other than -Fallot -hypocalcemia -weak thymus
LAST SYMPTOM (new)
VCF (velocardiofacial = telling you about possible symptoms)
fragile x syndrome - def is in what gene
FMR gene -> leads to CGG triplet expansion
granuloma consists of
macrophages gathered together
horse-shoe, giant cell in TB - called what
Langhan
hole in eye name
coloboma
cystic fibrosis G551 mut - treat with what drug
kaly deco
