Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key


Play button


Play button




Click to flip

77 Cards in this Set

  • Front
  • Back
Edwards (trisomy 18)
MR, CHD, rocker bottom feet***, small jaw, low set ears, prominent occiput, clenched hands****
death <1y
Patau's syndrome (trisomy 13)
MR, microphthalmia, microcephaly, cleft lip/palate, abnl forebrain, polydactyly, CHD
death <1y
down syndrome
face, extremities, GI, heart, cxns
face: flat face, epicanthal folds
extremities: simian drease
GI: duo atresia
heart: septum primum ASD (endocardial cushion defect)
cxns: AD, ALL
low set ears in 18
microcephaly in 18
no, 13
polydactyly in 18
no, 13
low set ears in 13
no, 18
small jaw in in 13
no, 18
cleft palate seen in which
microopthal seen in
prominent occiput
hormones indicating down syndrome in preg
low AFP, hi betaHCG (also see nuchal translucency)
genetic causes downs
95% maternal nondisjunction (age)
4% Robertsonian translocation
1% Down mosaicism
genetics of Cri du chat
short descrip
5p- deletion (large visible), most are NEW deletions
MR, epicanthal, CHD
epicanthal folds in downs and---
cri du chat
CHD in congenital rubella
septal, PDA
when see transposition of great arteries
when see truncus arteriosus (w/ what dz)
tetralogy of falot assoc w what genetics
CHD in 22q11
TA, tet of falot
describe pheno Williams syn: personality, difficulties/problems
happy, as age depress. have visuospatial problems and anxiety
Smith Maginis
sleep dz, tantrum, fluid thru the nose
ex of microdeletion
Cri du chat
ex frameshift
Duchenne Muscular Dystrophy
ex pt mutation
Sickle cell
name dzs only transmitted thru mom
mitochondrial- Leber's here optic neuropathy, mitochondrial myopathies
xlinked dominant, what does it mean? ex
all females of the affected father are diseased
ex hypophosphatemic rickets
ex x linked recessive, inheritance
G6PD, 1/2 the sons of the hetero mothers will be affected, no male to male transmission
ex imprinting
Angelman (mom), Prader Willis (dad)
chromo for FAP
mech of achondroplasia
AD cell signalling defect of FGF R3
chromo problem in Williams
chromo problem in Prader Willi
del 15q11-13 (paternal) (if maternal=Angelman)
chromo problem in Smith Magenis
chromo Miller Dieker
ex of duplication causing dz? its chromo?
Beckwith Wiedeman
(dup 11p15.5)
chromo problem in WAGR
del 11p3
dz results from CREB mutation, chromo
Rubinstein-Taybi, del16p13.3
dz from Jagged 1 mutat, chromo
Alagille, del 20p11.2-p12
CN defect, heart, choanal atresia, MR, genital , ear
vertebral, anal atresia, cardiac, tracheo/eso fistula, renal, limb (radial ray defect)
genetics of Charcot Marie Tooth
genetically heterozygous with many inheritence patterns
describe how Charcot Marie Tooth duplication PMP22 occurs
in male meiosis, chrom 17 unequal crossing over
(unlike HNPP which is deletion in PMP22)
describe Treacher Collin
absence cheek bones-notches lower eyelids
underdevelop/malform ears and side burns
usu conductive hear loss
(normal cognition)
inheritance Treacher Collins
AD, gene is TCDF1
Specific genetics of Fragile X
CGG repeat >200 of FMRI Xq27.3
genetic defect in Gardner
mutated APC
Li Fraumeni pheno:
male/female organs?
soft/hard tissue?
heme onc?
sarcomas-soft tissue and osteo
leuk and lymph
adrenocortical in children
other GI
genetics Li Fraumeni
p53 pt or missense mutation
HNPCC mutat
mutation in mismatch repair genes (MSH2,1,6) leads to microsatellite instability
genetics of Rett
XL D, sporadic. Xq28 with loss of MECP-2 which encodes global transcription repressor, range of pheno
Note: since on X also can be nonrandom X chromo inactiv
mutation in CF
many mutations, change F508 most common.
mutation mech Tay Sach
AR, 15q23, heterozygous mutations, hi number in Jews which tend to have one of 2 mutat
(defic hexosaminidase A)
congenital CM, genetics
X linked CM, problem in dystrophin gene not expressed in heart--CHF
female carrier can have DCM
chromo of achondroplasia, type mutation, inheritance
4p16.3 usu G380R, gene FGFR3 transmem
(missense mutation)
AD, >80% sporadic
genetics myotonic dystrophy
CTG repeat on DMPK (myo dys protein kinase gene)
describ presentation myotonic dystrophy
variable presentation age, but usu 20-50 w weakness and atrophy
cardiac conduction problem
frontal bald
mild MR
myotonia-delayed relax
Marfan connected with what in the parents
advanced paternal age
(Marfans, Turner, PMP22 type of Charcot Marie Tooth all paternal)
mechanism Hemo A
42% inversions, male mesosis,
genetic mutation in HemoB
very varible, have to seq entire gene
genetic mech of color blindness
recombination trble bc genes almost identical, get unequal crossing over leading to deletion, duplication, hybrid
also Red-green has to do w # tandom repeats
mitochondrial dz, myoclonic epilepsy and ragged red fiber, inherited pt mutation
other disorders assoc w FGFR
FGFR1=Pfeiffer (tower head)
FGFR2=Jackson Weiss, Crouzon (missense and splice), Apert (missense)
all cranio malform
mech Klinefelter
nondisjunction meo I or II, 1/2 paternal, 1/2 maternal
low uE3 on triple screen dx
describe pheno)
Smith Lemli Orbitz, anml cholesterol metabolism
AR, common, ambig genitalia, polydactyly, down turned lip, long philtrum, undeveloped low set ear
Smith Lemli Orbitz
AR, common, problem w cholesterol metab
ambig genitalia, polydactyly, down turned lip, long philtrum, undeveloped low set ear
detected on triple screen by low uE3
describe OI genetics
general descrip of ea kind
OI1=null allele (dx by chorionic villus sampling)
OI2=wide array mutat, perinatal lethal
OI3=progressive deforming
what happens to most Turner babies
usu aborted (accts for 50% of all 1 trimester abortions)
describe genetics of Turner
50% paternal non disjunction, 15%mosaic 45X/45XX
*if mosaic XY remove gonad
describe Prader Willi
usu present w feeding difficulty, as age become very obese
genetics of Di George, gene, fxn
22q11 (along with VCFS), problem with TBX1, a t factor
describe chromo, gene and inheritence pattern of albinoism
11q14-21 gene TYR (but clinical dx)
Friedrich's ataxia unusual bc
triple repeat (GAA) of INTRON
clinical Friedrich's ataxia
ataxia/hand mvmt
(onset late teens)
describe Miller Dieker syn
(17p11.2) lisencephaly=gyri/sulci absent, brain smooth
prom forehead
bi temp hollowing
short nose, upturned nares
protrub upper lip w thin border
small jaw
severe MR
clinical presentation Williams very early after birth
(elastin 7q11.23)
growth defic
infantile hi Ca (irritable, constip, mscl cramps)
CHD (supravalvular stenosis)
renal a stenosis
face: periorbital fullness w starburst iris, long philtrum w prominent lips
describe Angelman
(mom 15q11-13)
severe MR
inapprop laughter/absent speech
ataxia (wide based gait, flapping arms)
face: mid face retrusion/prominent chin, wide spaced teeth, large mouth
tongue thrust