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101 Cards in this Set

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  • Back
DM1 related MHC locus is on chrom #...?
What does leptin do?
suppress appetite
What are the 5 classes of mutations of LDL receptor?
sysnthesis, transport, binding, clustering, recycling
musty odor, hypopigmentation, seizure, retardation, developmental delay, microcephaly, eczema, if congenital watch out for heart defects
OTC def Sx?
often mistaken for sepsis, sudden neonatal coma, in male baby (lethargy, refusal to feed, grunts, rapid RR, seizure coma, cerebral edema, respiratory failure), in female baby (self protein restriction, cyclic vomiting, HA, slurred speech, ataxia)
What will labs show in OTC def?
low citrulline, high glutamine, high urine orotic acid, elevated ammonia
OTC def Tx?
Na benzoate to excrete glycine, Na phenylacetate to excrete glutamine, in acute scenario do hemodialysis and give arginine, in chronic give citrulline
Tay Sachs Sx?
hyperacusis (increased startle), hypotonia, cerebral and macular degeneration, cherry red spot on macula, progressive neurodegeneration, seizure, blindness, death by age 4
What is the carrier frequency for Tay Sachs in Ashkenazik Jews?
What five diseases are included in the newborn screen?
PKU, galactosemia, sickle cell, congenital adrenal hyperplasia, hypothyroid
Gaucher dz Sx? subtypes?
hepatosplenomegely, bone dz (femoral head erosions), anemia, thrombocytopenia, lung dz, fish skin, hydrops, calcified heart valves, supranuclear ophthal [type 1 dz has no CNS defects, type 2 is early infantile death due to CNS dz, type 3 is juvenile]
What enzyme is deficient in Gaucher dz?
During which weeks of gestation does organogenesis occur?
Weeks 4-7
What are clues to infxn in a fetus?
CNS calcification, IUGR, ophthalmic abnormalities
Fetal alcohol syndrome Sx?
microcephaly, IUGR, small palpebral fissure, smooth philtrum, 5th finger clinodactyly, nail hypoplasia, agenesis of CC and cerebellum, distal limb abnormalities, ASD/VSD, no fear, bad behavior
What is the window of teratogenicity for thalidomide?
days 21-36
Fetal SE of warfarin?
chondrodysplasia punctata, nasal bridge hypoplasia, hemorrhage
Fetal SE of DES (synthetic estrogen given to woman with recurrent abortions)?
meatal stenosis, hypospadias, cryptochordism, vaginal adenosis and adenocarcinoma in mom
Fetal SE of lithium?
Ebstein's anomaly of triscupid valve
Fetal SE of accutane?
CNS, ear, mental retardation, abortifecent
Fetal SE of hydantoin?
growth and mental retardation, cardiac anomalies, skeletal and limb defects, cleft palate, characteristic facies, arched eyebrow, nail hypoplasia
Fetal SE of valproate?
characteristic facies, cardiac and lib detects, spina bifida, cleft lip
Congenital rubella Sx?
microphthalmia, cataracts, PDA, pulmonic stenosis, deafness, microcephaly, immune and endocrine deficiencies
Congenital CMV Sx?
hydrocephalus, IUGR, chorioretinitis, deafness, seizure, intracranial calcification
Congenital toxoplasma Sx?
hydrocephalus, chorioretinities, deafness, intracranial calcification
Fetal effects of maternal DM?
macrosomia, polycythemia, coloboma, VSD, spina bifida, sacral agenesis, holoprosencephaly, decreased perfusion of lower extremities, sirenomelia (persistence of vitelline artery), caudal regression
Osteogenesis Imperfecta I Sx?
blue sclerae, nl bone xray, nl stature, nl teeth, few fractures (usually on ambulation and possibly at birth, rare in the perinatal period), high frequency hearing loss
What is the biochemistry of OI1? How do you Dx?
quantitative defect causing null allel, reduced synthesis of proa1(I) chains, COL1A1 defect, can't make enough type I procollagen, Dx: CVS, measure type I procollagen production in dermatofibroblasts
Osteogenesis Imperfecta II Sx?
perinatal lethal from respiratory failure, dark sclerae, beaked nose, soft calvarium, beaded ribs, bowed legs, flat vertebral bodies, small thoracic cavity
What is the biochemistry of OI2?
qualitative defect, glycine substitutions and C-termini mutations in COL1A1 gene
Osteogenesis Imperfecta III Sx? Tx?
progressive deforming subtype, defects with ambulation, kyphoscoliosis, pulmonary insufficiency, dentinogenesis imperfecta, undermineralized calvarium, thin ribs, osteopenic skeleton, angulation deformities of tibia and femur, short stature. Tx with intramedullary rods
What is the biochemistry of OI3?
qualitative defect, substitution in triple helix domain leads to formation of abnormal unstable pro alpha collagen
Osteogenesis Imperfecta IV Sx?
nl sclerae, dentinogenesis imperfecta is common, hearing loss
What is an overall great treatment for all forms of OI?
Ehlers Danlos type 1 Sx? mutation?
hyperextensible skin, joint hypermobility (seen with crawling), easy bruising, cigarette paper scars, early development of DJD, premature rupture of membranes leading to premature births, mutation in COL5A1
Ehlers Danlos type 2 and 3 Sx? mutation?
type 2: less severe than type 1
type 3: soft but not hyperextensible skin, mutation in COL5A1
Ehlers Danlos type 4 Sx? mutation?
vascular or ecchymotic, visible venous patterns, marked bruising, arterial rupture, colon rupture, uterine rupture, mutation in COL3A1
Marfan syndrome Sx?
aortic root dilatation due to tunica media defect, ectopia lentis, diastolic murmur, MVP, tall stature, wide arm span, arachnodactyly, scoliosis, pes planus, pectus excavatum, genu recurvatum, joint dislocation, dural ectasia, iridodenosis, spontaneous pneumothorax
Defect causing Marfan syndrome?
defect in fibrillin glycoprotein, FBN1 gene defect in chromosome 15, causes inappropriate proteolysis of extracellular microfibrils, associated with advanced paternal age
Achondroplasia Sx?
rhizomelia (proximal limb shortening), limitation of elbow extension, trident configuration of hands, genu varum, lumbar lordosis, macrocephaly with frontal bossing, foramen magnum tightening
What is the defect in achondroplasia?
G to A transition at nucleotide 1138 at codon G380R, mutation in FGFR3 protein transmembrane domain, gain of fxn mutation activates the protein which limits chondrocyte proliferation. A hotspot mutation! Associated with advanced paternal age
What is the mutation hotspot?
spontaneous deamination of 5-methylcytosine, CpG to TpG,
Name two gain of function mutations and three loss of function mutations.
Gain: achondroplasia, Charcot Marie Tooth
Loss: Williams, Di George, VCFS
Down Syndrome Sx?
midface hypoplasia, upslanted eyes, epicanthal folds, large tongue, small ears, short neck, redundant neck skin, AV canal defects, duodenal atresia ('double bubble sign'), single transverse palmar crease, 5th finger clinodactyly, Hirschsprungs, sandal gap deformity, increased risk of AML M7, Brushfield spots, hypothyroid, Alzheimers
What is the recurrence risk for Downs with maternal transmission? paternal? 21;21 translocation?
10, 1, 100
How does mosaic down syndrome occur?
post fertilization mosaicism
Trisomy 13 Sx?
AKA Patau syndrome, holoprosencephaly, microphthalmia, coloboma, microcephaly, post axial polydactyly, cleft palate, hypogenitalism, low ears, horseshoe kidney. ASSOCIATED WITH ADVANCED MATERNAL AGE
Trisomy 18 Sx?
AKA Edwards syndrome, triangular facies, pointy ears, small mouth, micrognathia, hypertonia, flexion deformity of fingers, rocker bottom feet, overlapped fingers, short sternum, omphalocele, heart defects
What makes trisomy 18 cytogenetics unique?
advanced maternal age association, RARE to ever have translocations, 90% nondisjunction of meiosis II (unique) and 10% mosaicis
Turners Sx?
short stature, cystic hygroma, lymphedema, aortic coarctation, horseshoe kidney, wide set nipples, streak gonads, increased carrying angle of arms, shield chest, Hashimotos, primary amenorrhea, no secondary sexual characteristics, nl intellect
What is unique about Turner cytogenetics?
only syndrome where monosomy is not uniformally fatal, but most Turners babies will still be spontaneously aborted, NOT associated with advanced maternal age, due to PATERNAL nondisjunction
What are the Klinefelter cytogenetics?
50:50 maternal and paternal nondisjunction
Klinefelter Sx?
eunuchoid, tall stature, gynecomastia, infertile, impaired language and reading, post pubertal testicular failure
Cri du chat Sx?
round face, hypertelorism, low set ears, mental retardation, shrill cry
Prader Willi Sx?
hypotonia, undescended testis, hyperphagia, obesity, OCD, almond eyes, carp shaped lips, partial albinism, narrow bifrontal diameter, upslanting palpebral fissures
What is special about Prader Willi cytogenetics?
example of imprinting, the microdeletion of paternal chromosome 15 or maternal uniparental disomy
Angelman Sx?
ataxia, inappropriate laughter, prominent jaw, side mouth, pointed chin, thrusting tongue, flapping hands, jerky movement, hypopigmentation, no speech
What is special about Angelman syndrome cytogenetics?
example of imprinting, the microdeletion of maternal chromosome 15 or paternal uniparental disomy, loss of fxn UBE3A gene, ubiquitination problem
What is the defect in Williams syndrome?
elastin gene, 7q deletion detectable by FISH
Williams syndrome Sx?
supravalvular aortic stenosis, triangular facies, long philtrum, hyperCa, prominent lips, cocktail party behavior, ADD, anxiety, can't draw, periorbital fullness, starburst iris
What disorder overlaps Di George?
Velocardiofacial syndrome
What is the defect in Di George?
defect in development of 3rd and 4th pouches, detect deletion with FISH
Di George Sx?
CATCH22: cardiac(truncus areteriosis, interrupted aortic arch), abnl facies, thymic hypoplasia (w/ subsequent T cell defect), cleft palate or lip, hypoCa (due to lack of parathyroids). Also look out for bifid uvula, small low set ears, hypertelorism
What is the genetics of Fragile X syndrome?
loss of function mutation of FMR1 gene (familial mental retardation), CGG repeats in 5' UTR, >200 repeats gives full disorder, use DNA analysis (not chromosomal) remember: premutation, anticipation, penetrance
Fragile X Sx?
macroorchism, hyperacivity, autism, facial dysmorphism, hypotonia, large chin, broad jaw, large ears, most common cause of mental retardation, due to lyonization can see retardation in some females as well
What is the genetics of myotonic dystrophy?
CTG repeat in 3' UTR of DMPK gene (myotonic dystrophy protein kinase), >1000 repeats
Myotonic dystrophy Sx?
myotonia, can't release grip, muscle weakness, atrophy, ptosis, open mouth, cardiac conduction problems, frontal balding, cataracts, endocrine problems, congenital form can occur if mom is carrier (polyhydramnios, respiratory insuffiency, facial diplegia, preterm labor risk)
Describe the genetics of Huntingtons disease.
>36 repeats is pathologic, >60 repeats will cause early onset, gain of function, atrophy of caudate
What makes Friedrich ataxia unique?
Only autosomal recessive triplet repeat disorder, repeat occurs in intron, GAA repeat
Friedrich ataxia Sx?
dysarthria, ataxia, sesory axonal polyneuropathy, cardiomyopathy
Charcot Marie Tooth Sx (for both subtypes)?
onion bulbing
Type 1: decreased NCV, polyneuropathy, distal muscle weakness, absent DTRs, high arched foot
Type 2: nl NCV
Compare Charcot Marie Tooth and HNPP.
Both defects of PMP22. For CMT, trisomic overexpression. For HNPP, monosomic underexpression. Usually de novo from male meiosis
What does HNPP stand for?
Hereditary Neuropathy with liability for Pressure Palsies
reduced NCV, episodic palsies precipitated by trauma/compression, carpal tunnel, sausage thickening of myelin sheath
Name three substances that should be avoided in those with PMP22 defects?
vincristine, alcohol, pesticides
What is the genetics of Rett syndrome?
X linked, MECP2 gene, epigenetic effects
Rett syndrome Sx?
leading cause of retardation and autism in girls, female predominance, signs show after 6-18 months of life, purposeless movement, apnea, ataxia, repetitive hand movement, acquired microcephaly, males die of neonatal encephalopathy
Name 6 cancers to which patients with Li Fraumeni are highly susceptible.
pancreatic, breast, leukemia/lymphoma, sarcoma, adrenocortical, brain
Name 4 problems associated with Cowden's syndrome
Breast, thyroid, uterine CA, skin abnormalities
What is the genetics of Gardner syndrome?
Mutation in APC, leads to destabilization of beta catenin protein responsible for regulating cell proliferation
Gardner syndrome Sx?
many polyps, colon CA risk, congenital hypertrophy of pigment epithelium, benign odontogenic cysts of the jaw or skull, epidermoid cysts, desmoid tumors, hepatoblastoma, thyroid CA risk
What is the genetics of HNPCC?
mismatch repair mutation (MSH2, MLH1, MSH6) causing microsatellite instability
What are the cancer risks for HNPCC?
gastric, small bowel, pancreas, kidney, endometrium, ovaries (NOT lung or breast). Better Px than average colorectal CA population
Neurofibromatosis Sx?
multiple neurofibromas (no transformation risk), schwannomas of CN VIII, cafe au lait spots, pigmented iris hamartomas (Lisch nodules), skeletal dysfxn (scoliosis and bone cysts), increased incidence of other tumors (ex: pheochromocytoma, Wilms, rhabdomyosarcoma, leukemia), plexiform neurofibroma (which have transformation risk to malignant peripheral nerve sheath), pseudoarthrosis in mid tibia, scoliosis, osteopenia, optic pathway tumors
Explain the connection of neurofibromatosis with farnesylation.
Farnesylation turns ras on, so inhibit farnesylation to turn ras off by giving statin. Neurofibromatosis is due to NF1 gene mutation that disables ras (and thus the GTPase)
Tuberous sclerosis Sx?
glial nodules, seizures, mental retardation, sebaceous adenoma, rhabdomyoma of the heart, renal angiomyolipomas, hypomelanotic macules, forehead plaque, subependymal nodules, cortical tubers
What is the genetics of Waardenburg syndrome?
PAX3 defect, most common autosomal dominant type syndromic hearing loss, problem with melanoblast migration from neural crest
Waardenburg Sx? Subtypes?
white forelock, heterochroma iridis, medial eyebrow flair, sensorineural hearing loss. Type 1: dystopia acanthorum (wide set eyes), Type 2: no eye abnl, Type 3: limb abnl, Type 4: Hirschsprung
Branchiootorenal Sx?
branchial clefts, cochlear malformation, stapes fixation, renal anomalies, ear pits, ear tags, combination hearing loss
Treacher collins Sx?
conductive hearing loss, downslanting eyes, no limb anomalies, absent zygomatic arch, no lower lids, no eyelashes, sideburns present
Nager Sx?
conductive hearing loss, ear/limb/renal/cardiac abnormalities, eyelid coloboma, micrognathia
Jervell and Lange Nielsen Sx?
congenital deafness with prolonged QT, syncope (check for family Hx), sudden death, mutation in KVLQT1 or KCNE1, heterozygotes will have only the prolonged QT
Usher Sx?
MC aut. recessive cause of hearing loss (sensorineural), retinitis pigmentosa
Pendred syndrome Sx?
hearing loss, euthyroid goiter, abnormal bony labyrinth (mondini syndrome)
Stickler syndrome Sx?
collage defect, predisposition to retinal detachment, cleft palate, osteoarthritis
Explain two subtypes of oculocutaneous albinism.
OCA1A: never darkens
OCA1B: darkens with age
tyrosine gene defect
Oculocutanous albinism Sx?
light skin, hair, and eyes; nystagmus, iris translucency, reduced retinal pigments, foveal hyperplasia
X linked ocular albinism Sx?
associated with Kallman syndrome, icthyosis (cracked skin), sensorineural hearin loss, contiguous gene deletion
Cystic fibrosis Sx?
COPD, exocrine pancreatic insufficiency, steatorrhea, dilated airways, increased susceptibility to DM, dilated bowel loops, failure to pass meconium, infertility, congenital bilateral absence of the vas deferens, failure to thrive, chronic infection, direct hyperbilirubinemia
Hereditary surfactant protein B deficiency Sx?
full term newborn with respiratory distress, absent lamellar bodies and abnormal vesicular cells, pulmonary HTN
Smith Lemli Opitz Sx?
hypocholesterolemia, cleft palate, ambiguous genitalia, post axial polydactyly, mom often has had prior miscarriage