Just For Fun Quiz / Block 8C Genetics Week 1

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Can you name the Block 8C Genetics?

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46XY with ambiguous genitalia and testes present, female habitus, no virilization at puberty?
Treatment for Turner
Tay Sachs inheritance
What does age of Huntington onset depend on?
What atrophies in Huntington's?
Colonic polyps, epithelioid/jaw cysts/hypertrophy of RPE
46 XY male with a mutation in DAX1 might have trouble with what?
Low phenylalanine protein that is a byproduct of cheese production
Aberrant segregation of homologous chromosomes into the same daughter cell
Most common mutation leading to CMT?
When does the pathogenetic process for Fragile X-Associated Tremor/Ataxia Syndrome start?
What protein is mutated in Li-Fraumeni syndrome?
Cells lost in SMA?
Block enzyme upstream of deficient enzyme
On a muscle biopsy, you see small fibers and large fibers. What is the disease?
46XY with 1ยบ amenorrhea or inguinal mass, testes present, Mullerian structures absent?
46XX or 45X with ambiguous genitalia and a dysmorphic feature (2-3 toes are combined)?
What are those with Beckwith-Wiedmann at an increased risk of?
3 genes responsible for early onset familial Alzheimer's?
Molecule that builds up in PKU
Craniofacial abnormalities, holoprosencephaly, hypertonia, seizures, malformed ears,VSD/ASD, iris colobama
Type of inheritance for CAH?
Most common cause of Beckwith-Wiedmann?
Most severe type of SMA?
Gene mutated in hereditary neuroblastoma
Gene mutated in Tay Sachs
Infant with poor feeding, thermal instability, cerebral edema, and rapid breathing?
Mild intellectual disability is unique to what kind of muscular dystrophy?
Acute treatment for OTCD
Type of genetic disorder: Achondroplasia
Gene associated with Smith-Lemli-Opitz?
Treatment for PKU
Mutated and normal mitochondrial DNA in one cell
Well at birth, baby has loss of motor skills, increased startle, acoustic hypersensitivity, decreaed DTRs
When should the newborn screen for PKU be done?
Microcephaly, rocker bottom feet, overlapping fingers, hypertonia (scissoring of legs), triangular face?
Major cause of death in Becker's patients?
Muscle weakness and wasting, cataracts, myotonia, cardiac conduction issues?
Skin abnormalities and non-immune hydrops fetalis
Tay Sachs enzyme that is deficient?
Most common neurodegenerative disorder?
Gene responsible for Fragile X?
Hyperammonemia, low citrulline, high glutamine, high urine orotic acid
Most common chromosomal abnormality found in newborns?
Branchial Arch involved with DiGeorge syndrome
Most common form of inherited intellectual disability?
Tumor cell has a mutation but blood cells do not
Gene mutated in Costello syndrome
Cri Du Chat Deletion
Type of genetic disorder: Down's
OTCD inheritance pattern
Buildup product in Gaucher's
% of miscarriages caused by chromosomal abnormalities?
Maternal deletion of 15q11-q13
What % of SMN2 transcripts are full length protein?
Tay Sachs treatment
Where is an increase in mutation loads in MELAS is it a bad prognostic indicator?
46 XX child with ambiguous genitalia, ovaries and Mullerian structures present
Long term treatment for OTCD
BCR-ABL is what type of translocation?
Hallmark of Tay Sachs disease
Greater risk of ovarian cancer? BRCA1 or BRCA2
GI anomaly common with Down syndrome?
Severe heart defects, severe infections, seizures, presents in infancy, hypocalcemia
How many repeats must occur to have Fragile X?
Percent of those with retinoblastoma have de novo mutations
Type ? Gaucher's: Infantile, very severe, nervous system problems
Common chromosomal abnormality not associated with advanced maternal age?
Type of genetic disorder: Turner's
Most dangerous thing with CAH?
Most common mutated gene in familial Alzheimer's?
Number of single nucleotide polymorphisms (SNPs) in the human genome?
Decrease in thenar muscles, decreased distal DTRs (keep patellar, lose ankle)?
Severe retardation, microcephaly w/ normal head circumf, seizures, ataxia, no speech
Drug specific for BCR-ABL kinase?
Gene mutated in FAP?
Macroglossia, omphalocele, visceromegaly,pits/grooves on ears, normal intelligence
Short stature, webbed neck, short metacarpals, horseshoe kidneys, aortic coarctation
Adult issues in Klinefelter patients?
T/F PMP22 is dosage sensitive
Enzyme inhibited by excess phenylalanine?
Along with colonoscopies, women with HNPCC should also be screened regularly for what?
What is the CAH newborn screen looking for?
T/F: MELAS is homoplasmic
Increased risk of colon cancer without polyposis?
Is APOE genotyping useful for diagnosis or risk assessment for Alzheimer's?
Normal child at birth, later on get a rash, vomiting, seizures, poor growth, lighter pigmentation?
Type of translocation in Burkitt's?
Paternal deletion of 15q11-q13
46XY with ambiguous genitalia, testes present, and virilization at puberty (switched from female to male)?
Largest gene that we know of?
Type of genetic disorder: Neural tube defects
Most common form/type of mutation in Duchenne's?
Increased distance between 1st and 2nd toes is seen in what chromosomal disorder?
You order FMR1 repeat testing on a boy with intellectual disability and autism, what kind of test is this?
Sex-determining region on the Y chromosome?
CMT is genetically _______?
Tumor cell and blood cells have the same mutation
Type of AML associated with Down syndrome?
Is maternal PKU teratogenic?
Translocations are common in what kind of cancers?
Risk for premature ovarian failure is higher in women carrying what mutated gene?
Young child who looks malnourished and has severe hypotonia, cryptorchidism
Do SNP arrays require DNA labeling?
What genetic test is run to diagnose myotonic dystrophy (what gene)?
Why is it crucial to catch inborn metabolic disorders early?
BCL-2 function
Gene associated with CAH?
Most common amplification-mutated oncogenes?
Certain genes are active or inactive depending on which parent transmits it
Normal baby girl, loss of neurological functioning starting around 18 months
What age should kids with FAP start getting sigmoid colonscopies?
What chromosomal abnormality increases the dose of APP (protein)?
Infant with tiny ribcage, tiny fibula, bowed femurs and tibias?
Common ionic disturbance assoc. w/ Williams syndrome?
Microdeletion in 7q11.21, 'Cocktail party personality'
Autosomal recessive deficiency of acid-beta glucosidase
Enzyme that is deficient in PKU
When should women with family history of Li-Fraumeni start getting breast cancer screenings?
Mild heart defects, weak/cleft palate, long face/fingers
Amyloid Precursor protein is dosage ______?
MECP2 gene is associated with what?

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Created Nov 26, 2012ReportNominate
Tags:block, genetic, note

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