Just For Fun Quiz / Block 8C Genetics Week 1

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Can you name the Block 8C Genetics?

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

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