Just For Fun Quiz / Block 8C Genetics Week 1

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QUIZ: Can you name the Block 8C Genetics?

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

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