Science Quiz / Block8c Genetics

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QuestionAnswerNotes
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)
QuestionAnswerNotes
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
QuestionAnswerNotes
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
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Created Dec 9, 2012ReportNominate
Tags:genetic, note

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