Just For Fun Quiz / Block 8C Genetics Week 1

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Can you name the Block 8C Genetics?

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

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