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88 Cards in this Set

  • Front
  • Back
meiosis II nondisjunction
trisomy 18
forehead plaque
tuberous sclerosis
hydrocephalus
CMV or toxo
neural crest issue
Waardenburg
PAX3
Waardenburg
hyperCa
Williams
heterochroma iridis
Waardenburg
dystopia acanthorum
Waardenburg
UBE3A
Angelman
CTG repeat
myotonic dystrophy
beaked nose
OI2
cigarette paper scars
Ehlers Danlos 1
microsatellite instability
HNPCC
Mondini's syndrome
Pendred
syncope
JLN
mistaken sepsis
OTC def
hyperacusis
Tay Sachs
Lisch nodules
neurofibromatosis
Triangular facies
trisomy 18, Williams
osteoarthritis
Stickler
carp lips
Prader Willi
undescended testis
Prader Willi
femoral head erosions
Gaucher
beaded ribs
OI2
uterine , colon rupture
Ehlers Danlos IV
holoprosencephaly, AMA
trisomy 13
absent DTRs
Charcot Marie Tooth
frontal balding
myotoni dystrophy
rhabdomyoma of heart
tuberous sclerosis
renal angiodysplasia
tuberous sclerosis
bifid uvula
DiGeorge
almond eyes
Prader Willi
thyroid CA risk
Gardner
Kallman
X linked ocular albinism
dysarthria
Friedrichs
ambiguous genitalia
Smith Lemli Opitz
ear tags
bronchiootorenal
advanced paternal
Marfan, achondroplasia
farnesylation
neurofibromatosis
CGG
Fragile X
PDA
rubella
Beta catenin destabilization
Gardner
flapping hands, hypopigment
Angel man
hypopigment
PKU
MECP2 (X lined)
Rett
epigenetic
Rett
loss of fxn (7 disorders)
Williams, DiGeorge, VCFD, Fragile X, BRCA, MODY, Angelman
gain of fxn (4 disorders)
achondroplasia, Charcot Marie Tooth, Huntington, Marfan
eczema
PKU
PAH gene
PKU
no HSmegely
Tay Sachs
HSmegely
Gaucher
wrinkled tissue paper cytoplasm
Gaucher
PAS+
Gaucher
RTA
galactosemia
alopecia, atrophy of optic nerve
biotinidase def
no CNS disease
Gaucher I
agenesis of corpus callosum
fetal alcohol syndrome
oligohydramnios, pulmonary hypoplasia
ACEi teratogenicity
arched eyebrow
Hydantoin teratogenicity
Spina bifida
valproate teratogenicity
beaked nose
OI2
premature membrane rupture
ED1
rupture of stuff
Ehlers Danlos
hypothyroid and Hirschsprungs risk, Brushfield spots
Downs
advanced maternal age
all the trisomies
contiguous gene syndrome
Charcot Marie Tooth, HNPP, X linked ocular albinism
almond eyes, partial albinism
Prader Willi
periorbital fullness, hyperCa
Williams
CGG, 5' UTR, FMR gene
Fragile X
CTG, 3' UTR, MDPK tyr kin
myotonic dystrophy
GAA
Friedrich ataxia
de novo from male meiosis
CMT and HNPP
decreased neuronal size, increased density, decreased arborization
Rett
sara buys lots ass butts pookie
Li Fraumeni
PTEN
Cowdens
Barry tried used Sara
Cowdens
APC, beta catenin
Gardner
pseudoarthrosis in mid tibia
neurofibromatosis
connexin
non sydromic hearing loss
medial eyebrow flair
Waardenburg
sensorineural loss
Waardenbug, Usher, Stickler
conductive loss
Nager, Treacher Collins
point mutation
CF
clenched hand
trisomy 18
cystic kidneys
trisomy 13
deletion 22
Di George
Downs maternal screen?
decreased AFP, increased HCG and decreased unconj estriol