Science Quiz / Block8c Genetics

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

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Created Dec 9, 2012ReportNominate
Tags:genetic, note

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