Science Quiz / Block8c Genetics

Random Science Quiz
Score 0/213 Timer 20:00
Genetic deficiency of phenylalanine hydroxylase, most are missense mutations
Type of testing for BRCA1/2 breast cancer when your relatives have cancer but you dont
Dx: Male pt w/ infertility and/or undervirilization, hypospadius, cryptorchism, 46XY
CA risk assoc w/ BRCA1 due to ? mutations
ARB that appears to disrupt TGFB signaling
'fish shaped' vertebrae (biconcave), compression fx
Syndrome: deletion 20p
Rx: rescues achondroplasia phenotype in mice
DM1 caused by GTG repeat expansion in 3'UTR in ? gene
Oncogene: Cardio-Facio-Cutaneous syndrome
Syndrome: deletion 15q w/ paternal deletion
Teratogenic infection: limb deficiencies, scars
transcription of one allele at a locus dependent on the parental origin of the allele
Dx: mutation in MECP2 on Xq28
Test to detect absence of heterozygosity (ie Consanguinity)
Gain or loss of function: Achondroplasia
Test to order for infertility, multiple miscarriages
Colon polyps, desmoid tumor, hepatoblastoma, medulloblastoma
how to Dx microdeletions
Type of ossification that gives rise to the flat bones
BCL-2 is upregulated in ?
Inheritance of Smith-Lemli-Opitz
polymorphism of ? affects 6-MP efficacy
3% carrier rate for connexin 26, what is the incidence of Connexin 26 related hearing loss?
Mismatch repair defects (MMR gene) and microsatellite instability
any substance is a teratogen if given at high enough dose
Altered RNA or protein: FXTAS
polymorphism of ? affects succinylcholine
Difference b/t cells obtained by CVS and amniocentesis
invasive fetal testing performed at 15-20 wks gestation
Macroglossia, omphalocele, visceromegaly, overgrowth in bone
Distal portion of Xp and Yp, DNA crossover during male meiosis
hypotonia and severe weakness at birth w/ respiratory insufficiency
genetic variant assoc w/ CAD
MC genetic risk w/ advanced paternal age
MC chromosomal abnormality
APC - KRAS - DCC - p53; loss = ?
Type of ossification that gives rise to the long bones
MC cardiac finding in del 22q11.2
Dx: macrocephaly, frontal bossing, midface hypoplasia, short stature, rhizomelic shortening of the extremities, trident hands
morphological defect from inferference/breakdown of normal dev process
Test to order for recurrence risk of Down syndrome
Missense mutation in ? oncogene predict resp of lung CA to gefitinib
Dx: Ambiguous genitalia, dysmorphic feature +/- organ involvement, 45X or 46XY
SMA Tx: inc amt of exon 7-containing SMN protein
SMN1 or 2: phenotype less severe if more copies
Gain or loss of function: Fragile X
Del 22q11.2 in adulthood, nasal voice, mild heart defects, long face/fingers
Inheritance of Ornithine transcarbamoylase (OTC) deficiency
Dx: Long QT syndrome, AD
Teratogen: CNS, cardiac, and craniofacial anomalies
Dx: multiple congentital anomalies, genital anomalies in males, 2-3 toe syndactyly
chromosome that amyloid precursor protein (APP) is on
Deficit of delta-7-dehydrocholesterol reductase
Teratogenic infection: microcephaly, intracranial calcifications
Toxicity: bone marrow and GI tract from this chemo if homozygous for variant 28
GU abnormality assoc w/ Turner syndrome
MC genetic cause of neuropathy
MC disease-producing enzyme defect (Heinz bodies)
46, XY, mutation of DAX1 causes?
Mutation - Osteogenesis Imperfecta Type II
Lebanese descent, vomiting, yellow sclerae, dark urine, broad beans
infancy, immunodeficient, sz (hypocalemia), bifid uvula, sv heart defects
MC gene assoc w/ early onset Alzheimer’s disease
Teratogen: shortening of limbs, stippling of epiphyses, hypoplasia of nose
Dx: Ambiguous genitalia, testes present, 46XY, virilization at puberty
MC type of p53 TSG mutation
Potocki-Lupski syndrome due to this genetic process
holoprosencephaly, postaxial polydactyly, VSD/ASD, scalp defects, iris coloboma, malformed ears
Collagen IV dz due to deficiency in ?
Gene: Hereditary neuropathy with liability to pressure palsies (HNPP)
46, XY, male to female sex reversal due to ? of DAX1
AA that becomes essential for urea cycle in OTC deficiency
Screening test for common trisomies in high risk population
Syndrome: deletion 11p
Ammonia scavenger tx for OTC deficiency
Syndrome: deletion 22q
Hearing loss + Retinitis Pigmentosa
Malignant hyperthermia: 70% mutations in?
Reciprocal Duplication of Smith-Magenis
chorea in a teenager
Syndrome: deletion 17p
Inheritance of Marfan syndrome
Cells that produce Mullerian Inhibiting Factor
Syndrome: deletion 7p
Inheritance of familial adenomatous polyposis
MC chromosomal abnormality in spontaneous abortions
Long term survivors of bilateral Rb: second MC primary cancer in childhood
Sx: ptosis, wide-spread eyes, low ears, inverted triangular face, webbed neck, pulm valve stenosis
Altered RNA or protein: DM1 and DM2
Bone shortening of proximal segments
Dx: Weight loss, fatigue, inc skin pigmentation (bronzing), DM, joint pain, impotence
Oncogene: hereditary papillary renal cell cancer
Dx: stroke that doesn't follow territory of large blood vessels
Slow acetylators of hydralazine may get ?
Toxicity: peripheral neuropathy and bone marrow suppress due to N-acetyltransferase polymorphism
Dx: cystic hygroma on prenatal U/S
child w/ sarcoma and his mom has breast CA
Gene: Noonan syndrome
primary alternation in embryogenesis which is not secondary to a mechanical or vascular cause
Dx: degeneration and loss of anterior horn cells in spinal cord and brainstem
Women w/ Li Fraumeni syndrome should do breast cancer survellance how?
member of cytochrome p450 family involved in metabolism of 40% of all drugs
Oncogene: hereditary neuroblastoma
WNT4 and DAX1 necessary for initiation of ? development
Gain or loss of function: FXTAS
Sex-determining region (on Y) initiates dev of testis
MC amino acid disorder
Microcephaly, microphthalmia, micrognathia, rocker bottom feet, overlapping fingers, abd wall defects
Gene: Fragile X
AD condition, deficiency of PBG deaminase
Teratogen: fetal hypotension, renal tubular dysplasia, anuria-oligohydramnios
Inheritance of Spinal muscular atrophy
Teratogenic infection: microcephaly, retinitis
families with increased risk of colon cancer in the absence of polyposis
Diagnostic testing for Smith-Lemli-Opitz
Single missense mutation causes RAS oncogene to become
Term describing BCR and ABL genes joining to form fusion gene
Male breast CA is MC in families w/ ?
Hearing loss + Goiter
type V collagen mutation
Double bubble sign on XR
CNS complication w/ Marfan syndrome
Cytochromes involved in which part of phase I drug metabolism
Rx: GIST w/ activation of c-Kit kinase
Teratogen now used to tx HIV infections, Chrohn's, leprosy, multiple myeloma
Neurons in the cerebral cortex and hippocampus are selectively lost
SE: pamidronate or zoledronic acid
Tx is heme arginate and IV glucose
Aortic dissection, bowel rupture and uterine rupture
Oncogene: Costello syndrome w/ skeletal abnormalities, dev delay, bladder CA, neuroblastoma
N-myc amplification frequently found in ?
Dx: skeletal dysplasia, congenital/renal/CNS anomalies, 'sex reversal' in 46 XY
Most important regulatory molecules in the eukaryotic cell cycle
Teratogen: wide anterior fontanelle, hypertelorism, short nose w/ bowed upper lip, cleft lip/palate
isolated human gene that causes foci
Dx: frontal balding, cataracts, 'hatchet' facies, SCM wasting, gynecomastia
Sirenomelia due to persistence of?
Name for SMA type 1 (never achieves ability to sit w/o support, fasciculation of tongue
Adult w/ generalized obesity, small hands/feet, MR, obsessive compulsive behavior, almond shaped eyes
thenar and hypothenar atrophy, absent distal DTRs, 'stork-leg' appearance
Hyperammonemia, low citrulline, high glutamine
invasive fetal testing performed at ~12 wks gestation
Bone shortening of middle segments
Fetal dilantin susceptibility depends on (genotype) activity of which enzyme
Dx: Renal pain, cyst hemorrhage/infection, HTN, renal insufficiency
mutation in 1 of the 2 transfer RNA genes of mitochondria
MC *inherited* form of ID
Gene: Duchenne Musclular Dystrophy
AR deficiency of acid-beta glucosidase
Gene: familial adenomatous polyposis
Reciprocal duplication to HNPP (deletion)
Inheritance of most Osteogenesis Imperfecta
Hearing loss + disrupted tissues in the neck and malformations of ears/kidneys
Tremulousness of iris due to lens subluxation
Syndrome: deletion 15q w/ maternal deletion
GI polyps, freckling of lips
Families with hearing loss and palmoplantar keratoderma (PPK)
Progressive neurological disorder in girls, loss of purposeful hand movements
Leukemia assoc w/ Trisomy 21
CVS abnormality assoc w/ Turner syndrome
Gain or loss of function: Huntington's
Dx: Female pt w/ primary amenorrhea or inguinal mass, testes present, mullerian structure absent, 46XY
Infant w/ agenesis of corpus callosum, cerebellar hypoplasia, VSD, ASD, short palpebral fissures, smooth philtrum
MC genetic risk w/ advanced maternal age
oxidant drug that depletes glutathione and worsens G6PD deficiency
cherry red fovea, lipid laden ganglion cells
Haploinsufficiency of SOX9, AD inheritance
Dx: nuchal translucency (U/S)
Oligo CMA measures ?
easy sunburn, photophobia, photosensitivity, premature skin changes
Dx: enlarged kidneys perinatally, pulmonary hypoplasia, severe HTN
Dx: ALK - fusion by translocation
Lots of genetic causes for same phenotype
Gene: Achondroplasia
Dx: Pfeiffer syndrome, craniosynostoses w/ AD inheritance
Defect in normal structure due to non-disruptive mech forces such as compression, constriction, immobility
B haplotype effect on dosing of warfarin
Gene: Tay Sachs Disease
MC type of genetic mutation causing Duchenne MD
Achondroplasia: MRI at birth to check for?
Sv MR, Sz, midface retrusion, unprovoked laughter, ataxia
Hearing loss + Long QT and sudden death
Dev delay, light pigmentation, vomiting, musty odor
MC form of ID
MC inherited form of Long QT syndrome
Dx: 46XX, ambiguous genitalia, ovaries/mullerian structures present
PKU tx to increase activity of PAH enzyme
Rx: most active metabolite undergoes phase I detoxification by CYP2C9
aberrant segregation of homologous chromosomes into same daughter cell
MC epigenetic alteration in sporadic cases of Beckwith-Wiedemann
Dx: MCC XX female but virulized
OI Rx: inhibit osteoclastic activity and induce apoptosis
Teratogenic infection: deafness, cataracts, chorioretinities, cardiac anomalies
BMD or DMD: preservation of neck flexor muscle strength
del 7q11.23 including ELN gene, ADD, overly friendly
Tx: sporatic breast Ca w/ Her2/c-ERBB2 receptor +
Inheritance of Achondroplasia
Testicular atrophy after puberty w/ hyalinization and fibrosis of seminiferous tubules due to excess gonadotropins
If fetus has Ehlers-Danlos, risk of?
MCC non-syndromic hearing loss
retinoblastoma: 2-hit phenotype
Critical growth period during which teratogenic agent can cause malformation
Oncogene: Burkitt lymphoma
Bone shortening of distal segments (hands/feet)
Oncogene: MEN type 2
Deficiency of hexosaminidase A
inheritance in breast-ovarian families
MC teratogenic form of ID
5p Deletion, IQ < 20, walk late w/ unsteady gait
Hearing loss + changes in coloring (pigmentation) of the hair, skin, and eyes
Aneuploidy - 70% paternal in origin, not assoc w/ AMA
MCC sudden death in young/competitive athletes
Remove Ads.
Support Sporcle.
Get the best of Sporcle when you Go Orange. This ad-free experience offers more features, more stats, and more fun while also helping to support Sporcle. Thank you for becoming a member.

You're not logged in!

Compare scores with friends on all Sporcle quizzes.
Log In

Show Comments


Created Dec 9, 2012ReportNominate
Tags:genetic, note

Top Quizzes Today

Score Distribution

Your Account Isn't Verified!

In order to create a playlist on Sporcle, you need to verify the email address you used during registration. Go to your Sporcle Settings to finish the process.

Report this User

Report this user for behavior that violates our Community Guidelines.