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77 Cards in this Set
- Front
- Back
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Edwards (trisomy 18)
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MR, CHD, rocker bottom feet***, small jaw, low set ears, prominent occiput, clenched hands****
death <1y |
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Patau's syndrome (trisomy 13)
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MR, microphthalmia, microcephaly, cleft lip/palate, abnl forebrain, polydactyly, CHD
death <1y |
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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 |
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low set ears in 18
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yes
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microcephaly in 18
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no, 13
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polydactyly in 18
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no, 13
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low set ears in 13
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no, 18
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small jaw in in 13
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no, 18
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cleft palate seen in which
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13
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microopthal seen in
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13
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prominent occiput
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18
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hormones indicating down syndrome in preg
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low AFP, hi betaHCG (also see nuchal translucency)
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genetic causes downs
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95% maternal nondisjunction (age)
4% Robertsonian translocation 1% Down mosaicism |
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genetics of Cri du chat
short descrip |
5p- deletion (large visible), most are NEW deletions
MR, epicanthal, CHD |
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epicanthal folds in downs and---
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cri du chat
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CHD in congenital rubella
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septal, PDA
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when see transposition of great arteries
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DM
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when see truncus arteriosus (w/ what dz)
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22q11
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tetralogy of falot assoc w what genetics
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22q11
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CHD in 22q11
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TA, tet of falot
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describe pheno Williams syn: personality, difficulties/problems
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happy, as age depress. have visuospatial problems and anxiety
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Smith Maginis
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sleep dz, tantrum, fluid thru the nose
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ex of microdeletion
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Cri du chat
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ex frameshift
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Duchenne Muscular Dystrophy
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ex pt mutation
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Sickle cell
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name dzs only transmitted thru mom
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mitochondrial- Leber's here optic neuropathy, mitochondrial myopathies
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xlinked dominant, what does it mean? ex
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all females of the affected father are diseased
ex hypophosphatemic rickets |
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ex x linked recessive, inheritance
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G6PD, 1/2 the sons of the hetero mothers will be affected, no male to male transmission
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ex imprinting
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Angelman (mom), Prader Willis (dad)
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chromo for FAP
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5
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mech of achondroplasia
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AD cell signalling defect of FGF R3
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chromo problem in Williams
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7q11.23
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chromo problem in Prader Willi
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del 15q11-13 (paternal) (if maternal=Angelman)
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chromo problem in Smith Magenis
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del17p11.2
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chromo Miller Dieker
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del17p13.3
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ex of duplication causing dz? its chromo?
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Beckwith Wiedeman
(dup 11p15.5) |
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chromo problem in WAGR
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del 11p3
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dz results from CREB mutation, chromo
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Rubinstein-Taybi, del16p13.3
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dz from Jagged 1 mutat, chromo
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Alagille, del 20p11.2-p12
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CHARGE synd
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CN defect, heart, choanal atresia, MR, genital , ear
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VACTERL
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vertebral, anal atresia, cardiac, tracheo/eso fistula, renal, limb (radial ray defect)
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genetics of Charcot Marie Tooth
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genetically heterozygous with many inheritence patterns
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describe how Charcot Marie Tooth duplication PMP22 occurs
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in male meiosis, chrom 17 unequal crossing over
(unlike HNPP which is deletion in PMP22) |
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describe Treacher Collin
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absence cheek bones-notches lower eyelids
underdevelop/malform ears and side burns usu conductive hear loss (normal cognition) |
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inheritance Treacher Collins
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AD, gene is TCDF1
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Specific genetics of Fragile X
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CGG repeat >200 of FMRI Xq27.3
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genetic defect in Gardner
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mutated APC
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Li Fraumeni pheno:
male/female organs? soft/hard tissue? heme onc? organs? |
sarcomas-soft tissue and osteo
breast leuk and lymph adrenocortical in children brain pancreatic other GI |
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genetics Li Fraumeni
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p53 pt or missense mutation
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HNPCC mutat
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mutation in mismatch repair genes (MSH2,1,6) leads to microsatellite instability
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genetics of Rett
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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 |
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mutation in CF
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many mutations, change F508 most common.
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mutation mech Tay Sach
gene |
AR, 15q23, heterozygous mutations, hi number in Jews which tend to have one of 2 mutat
**hyperacusis! (defic hexosaminidase A) |
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congenital CM, genetics
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X linked CM, problem in dystrophin gene not expressed in heart--CHF
female carrier can have DCM |
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chromo of achondroplasia, type mutation, inheritance
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4p16.3 usu G380R, gene FGFR3 transmem
(missense mutation) AD, >80% sporadic |
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genetics myotonic dystrophy
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CTG repeat on DMPK (myo dys protein kinase gene)
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describ presentation myotonic dystrophy
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variable presentation age, but usu 20-50 w weakness and atrophy
cardiac conduction problem frontal bald cataracts endocrine mild MR myotonia-delayed relax |
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Marfan connected with what in the parents
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advanced paternal age
(Marfans, Turner, PMP22 type of Charcot Marie Tooth all paternal) |
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mechanism Hemo A
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42% inversions, male mesosis,
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genetic mutation in HemoB
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very varible, have to seq entire gene
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genetic mech of color blindness
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recombination trble bc genes almost identical, get unequal crossing over leading to deletion, duplication, hybrid
also Red-green has to do w # tandom repeats |
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MERRF
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mitochondrial dz, myoclonic epilepsy and ragged red fiber, inherited pt mutation
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other disorders assoc w FGFR
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FGFR1=Pfeiffer (tower head)
FGFR2=Jackson Weiss, Crouzon (missense and splice), Apert (missense) all cranio malform |
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mech Klinefelter
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nondisjunction meo I or II, 1/2 paternal, 1/2 maternal
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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 |
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Smith Lemli Orbitz
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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 |
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describe OI genetics
general descrip of ea kind |
heterogenous
OI1=null allele (dx by chorionic villus sampling) OI2=wide array mutat, perinatal lethal OI3=progressive deforming |
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what happens to most Turner babies
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usu aborted (accts for 50% of all 1 trimester abortions)
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describe genetics of Turner
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50% paternal non disjunction, 15%mosaic 45X/45XX
*if mosaic XY remove gonad |
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describe Prader Willi
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usu present w feeding difficulty, as age become very obese
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genetics of Di George, gene, fxn
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22q11 (along with VCFS), problem with TBX1, a t factor
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describe chromo, gene and inheritence pattern of albinoism
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11q14-21 gene TYR (but clinical dx)
occulo=XL occulo/cut=AR |
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Friedrich's ataxia unusual bc
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AR
triple repeat (GAA) of INTRON |
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clinical Friedrich's ataxia
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ataxia/hand mvmt
dysarthria polyneuro autism cardiomyopathy (onset late teens) |
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describe Miller Dieker syn
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(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 |
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clinical presentation Williams very early after birth
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(elastin 7q11.23)
growth defic MR infantile hi Ca (irritable, constip, mscl cramps) CHD (supravalvular stenosis) renal a stenosis face: periorbital fullness w starburst iris, long philtrum w prominent lips |
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describe Angelman
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(mom 15q11-13)
severe MR inapprop laughter/absent speech sz ataxia (wide based gait, flapping arms) face: mid face retrusion/prominent chin, wide spaced teeth, large mouth tongue thrust |
