Just For Fun Quiz / Block 8C Genetics Week 1

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Can you name the Block 8C Genetics?

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

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