Just For Fun Quiz / Block 8C Genetics Week 1

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Can you name the Block 8C Genetics?

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

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

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