Science Quiz / Block8c Genetics

Random Science Quiz

QUIZ: Can you name the Block8c Genetics?

Quiz not verified by Sporcle

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

You're not logged in!

Compare scores with friends on all Sporcle quizzes.
Sign Up with Email
OR
Log In

You Might Also Like...

Show Comments

Extras

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.