Science Quiz / Block8c Genetics

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Can you name the Block8c Genetics?

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Dx: degeneration and loss of anterior horn cells in spinal cord and brainstem
BCL-2 is upregulated in ?
46, XY, male to female sex reversal due to ? of DAX1
Slow acetylators of hydralazine may get ?
Gene: familial adenomatous polyposis
chorea in a teenager
Bone shortening of middle segments
Reciprocal Duplication of Smith-Magenis
Type of ossification that gives rise to the long bones
Ammonia scavenger tx for OTC deficiency
Cytochromes involved in which part of phase I drug metabolism
transcription of one allele at a locus dependent on the parental origin of the allele
Hearing loss + Long QT and sudden death
B haplotype effect on dosing of warfarin
Syndrome: deletion 11p
MC chromosomal abnormality in spontaneous abortions
PKU tx to increase activity of PAH enzyme
Lebanese descent, vomiting, yellow sclerae, dark urine, broad beans
GI polyps, freckling of lips
Type of testing for BRCA1/2 breast cancer when your relatives have cancer but you dont
holoprosencephaly, postaxial polydactyly, VSD/ASD, scalp defects, iris coloboma, malformed ears
'fish shaped' vertebrae (biconcave), compression fx
any substance is a teratogen if given at high enough dose
Oncogene: Cardio-Facio-Cutaneous syndrome
Oncogene: hereditary neuroblastoma
Neurons in the cerebral cortex and hippocampus are selectively lost
Dx: stroke that doesn't follow territory of large blood vessels
DM1 caused by GTG repeat expansion in 3'UTR in ? gene
If fetus has Ehlers-Danlos, risk of?
MC cardiac finding in del 22q11.2
Dx: enlarged kidneys perinatally, pulmonary hypoplasia, severe HTN
Testicular atrophy after puberty w/ hyalinization and fibrosis of seminiferous tubules due to excess gonadotropins
Aortic dissection, bowel rupture and uterine rupture
Mutation - Osteogenesis Imperfecta Type II
Tx: sporatic breast Ca w/ Her2/c-ERBB2 receptor +
Syndrome: deletion 22q
Gene: Achondroplasia
thenar and hypothenar atrophy, absent distal DTRs, 'stork-leg' appearance
Teratogenic infection: microcephaly, intracranial calcifications
SMA Tx: inc amt of exon 7-containing SMN protein
Dx: macrocephaly, frontal bossing, midface hypoplasia, short stature, rhizomelic shortening of the extremities, trident hands
CVS abnormality assoc w/ Turner syndrome
Women w/ Li Fraumeni syndrome should do breast cancer survellance how?
cherry red fovea, lipid laden ganglion cells
AD condition, deficiency of PBG deaminase
Teratogen: fetal hypotension, renal tubular dysplasia, anuria-oligohydramnios
Rx: most active metabolite undergoes phase I detoxification by CYP2C9
MCC non-syndromic hearing loss
Name for SMA type 1 (never achieves ability to sit w/o support, fasciculation of tongue
Sirenomelia due to persistence of?
Dx: Ambiguous genitalia, testes present, 46XY, virilization at puberty
morphological defect from inferference/breakdown of normal dev process
Dx: frontal balding, cataracts, 'hatchet' facies, SCM wasting, gynecomastia
Hearing loss + changes in coloring (pigmentation) of the hair, skin, and eyes
Leukemia assoc w/ Trisomy 21
Sx: ptosis, wide-spread eyes, low ears, inverted triangular face, webbed neck, pulm valve stenosis
Dx: Pfeiffer syndrome, craniosynostoses w/ AD inheritance
polymorphism of ? affects succinylcholine
Tremulousness of iris due to lens subluxation
SMN1 or 2: phenotype less severe if more copies
Macroglossia, omphalocele, visceromegaly, overgrowth in bone
families with increased risk of colon cancer in the absence of polyposis
Haploinsufficiency of SOX9, AD inheritance
AA that becomes essential for urea cycle in OTC deficiency
Teratogen: wide anterior fontanelle, hypertelorism, short nose w/ bowed upper lip, cleft lip/palate
Syndrome: deletion 15q w/ paternal deletion
isolated human gene that causes foci
Colon polyps, desmoid tumor, hepatoblastoma, medulloblastoma
Cells that produce Mullerian Inhibiting Factor
Dx: Ambiguous genitalia, dysmorphic feature +/- organ involvement, 45X or 46XY
SE: pamidronate or zoledronic acid
Hyperammonemia, low citrulline, high glutamine
Toxicity: peripheral neuropathy and bone marrow suppress due to N-acetyltransferase polymorphism
MC form of ID
Oncogene: hereditary papillary renal cell cancer
MC teratogenic form of ID
BMD or DMD: preservation of neck flexor muscle strength
Dev delay, light pigmentation, vomiting, musty odor
Test to detect absence of heterozygosity (ie Consanguinity)
Inheritance of most Osteogenesis Imperfecta
easy sunburn, photophobia, photosensitivity, premature skin changes
MC genetic cause of neuropathy
MCC sudden death in young/competitive athletes
Adult w/ generalized obesity, small hands/feet, MR, obsessive compulsive behavior, almond shaped eyes
Syndrome: deletion 17p
Gene: Hereditary neuropathy with liability to pressure palsies (HNPP)
how to Dx microdeletions
Single missense mutation causes RAS oncogene to become
Test to order for infertility, multiple miscarriages
Oncogene: Costello syndrome w/ skeletal abnormalities, dev delay, bladder CA, neuroblastoma
MC genetic risk w/ advanced maternal age
Gain or loss of function: Achondroplasia
Teratogenic infection: limb deficiencies, scars
Microcephaly, microphthalmia, micrognathia, rocker bottom feet, overlapping fingers, abd wall defects
Families with hearing loss and palmoplantar keratoderma (PPK)
Hearing loss + Goiter
Rx: GIST w/ activation of c-Kit kinase
genetic variant assoc w/ CAD
type V collagen mutation
Sv MR, Sz, midface retrusion, unprovoked laughter, ataxia
MC disease-producing enzyme defect (Heinz bodies)
Achondroplasia: MRI at birth to check for?
CA risk assoc w/ BRCA1 due to ? mutations
Inheritance of Spinal muscular atrophy
Dx: Renal pain, cyst hemorrhage/infection, HTN, renal insufficiency
Bone shortening of proximal segments
mutation in 1 of the 2 transfer RNA genes of mitochondria
Deficit of delta-7-dehydrocholesterol reductase
Del 22q11.2 in adulthood, nasal voice, mild heart defects, long face/fingers
Rx: rescues achondroplasia phenotype in mice
ARB that appears to disrupt TGFB signaling
Oncogene: Burkitt lymphoma
Sex-determining region (on Y) initiates dev of testis
aberrant segregation of homologous chromosomes into same daughter cell
Genetic deficiency of phenylalanine hydroxylase, most are missense mutations
Teratogen now used to tx HIV infections, Chrohn's, leprosy, multiple myeloma
Dx: Female pt w/ primary amenorrhea or inguinal mass, testes present, mullerian structure absent, 46XY
Lots of genetic causes for same phenotype
Dx: Weight loss, fatigue, inc skin pigmentation (bronzing), DM, joint pain, impotence
MC amino acid disorder
Dx: cystic hygroma on prenatal U/S
Difference b/t cells obtained by CVS and amniocentesis
Gene: Duchenne Musclular Dystrophy
3% carrier rate for connexin 26, what is the incidence of Connexin 26 related hearing loss?
Oncogene: MEN type 2
OI Rx: inhibit osteoclastic activity and induce apoptosis
Bone shortening of distal segments (hands/feet)
del 7q11.23 including ELN gene, ADD, overly friendly
Dx: MCC XX female but virulized
Dx: mutation in MECP2 on Xq28
invasive fetal testing performed at 15-20 wks gestation
Altered RNA or protein: FXTAS
Progressive neurological disorder in girls, loss of purposeful hand movements
child w/ sarcoma and his mom has breast CA
46, XY, mutation of DAX1 causes?
invasive fetal testing performed at ~12 wks gestation
Teratogen: shortening of limbs, stippling of epiphyses, hypoplasia of nose
member of cytochrome p450 family involved in metabolism of 40% of all drugs
APC - KRAS - DCC - p53; loss = ?
Gain or loss of function: FXTAS
Type of ossification that gives rise to the flat bones
Screening test for common trisomies in high risk population
Aneuploidy - 70% paternal in origin, not assoc w/ AMA
Hearing loss + Retinitis Pigmentosa
Dx: Long QT syndrome, AD
MC inherited form of Long QT syndrome
infancy, immunodeficient, sz (hypocalemia), bifid uvula, sv heart defects
Inheritance of Achondroplasia
Altered RNA or protein: DM1 and DM2
5p Deletion, IQ < 20, walk late w/ unsteady gait
N-myc amplification frequently found in ?
MC *inherited* form of ID
Inheritance of Smith-Lemli-Opitz
Gain or loss of function: Huntington's
Gain or loss of function: Fragile X
Double bubble sign on XR
Dx: Male pt w/ infertility and/or undervirilization, hypospadius, cryptorchism, 46XY
Gene: Noonan syndrome
MC type of genetic mutation causing Duchenne MD
Deficiency of hexosaminidase A
Inheritance of Marfan syndrome
polymorphism of ? affects 6-MP efficacy
Gene: Fragile X
Potocki-Lupski syndrome due to this genetic process
Critical growth period during which teratogenic agent can cause malformation
Teratogenic infection: deafness, cataracts, chorioretinities, cardiac anomalies
Inheritance of Ornithine transcarbamoylase (OTC) deficiency
Syndrome: deletion 15q w/ maternal deletion
oxidant drug that depletes glutathione and worsens G6PD deficiency
Oligo CMA measures ?
Male breast CA is MC in families w/ ?
Gene: Tay Sachs Disease
Distal portion of Xp and Yp, DNA crossover during male meiosis
Dx: 46XX, ambiguous genitalia, ovaries/mullerian structures present
chromosome that amyloid precursor protein (APP) is on
AR deficiency of acid-beta glucosidase
retinoblastoma: 2-hit phenotype
WNT4 and DAX1 necessary for initiation of ? development
Reciprocal duplication to HNPP (deletion)
Syndrome: deletion 7p
GU abnormality assoc w/ Turner syndrome
MC genetic risk w/ advanced paternal age
Syndrome: deletion 20p
Toxicity: bone marrow and GI tract from this chemo if homozygous for variant 28
Inheritance of familial adenomatous polyposis
MC epigenetic alteration in sporadic cases of Beckwith-Wiedemann
inheritance in breast-ovarian families
Teratogenic infection: microcephaly, retinitis
Most important regulatory molecules in the eukaryotic cell cycle
Teratogen: CNS, cardiac, and craniofacial anomalies
Defect in normal structure due to non-disruptive mech forces such as compression, constriction, immobility
Dx: skeletal dysplasia, congenital/renal/CNS anomalies, 'sex reversal' in 46 XY
MC chromosomal abnormality
Fetal dilantin susceptibility depends on (genotype) activity of which enzyme
hypotonia and severe weakness at birth w/ respiratory insufficiency
Test to order for recurrence risk of Down syndrome
Collagen IV dz due to deficiency in ?
Tx is heme arginate and IV glucose
Dx: nuchal translucency (U/S)
Hearing loss + disrupted tissues in the neck and malformations of ears/kidneys
Long term survivors of bilateral Rb: second MC primary cancer in childhood
MC type of p53 TSG mutation
Malignant hyperthermia: 70% mutations in?
Infant w/ agenesis of corpus callosum, cerebellar hypoplasia, VSD, ASD, short palpebral fissures, smooth philtrum
primary alternation in embryogenesis which is not secondary to a mechanical or vascular cause
MC gene assoc w/ early onset Alzheimer’s disease
Dx: multiple congentital anomalies, genital anomalies in males, 2-3 toe syndactyly
Mismatch repair defects (MMR gene) and microsatellite instability
CNS complication w/ Marfan syndrome
Dx: ALK - fusion by translocation
Diagnostic testing for Smith-Lemli-Opitz
Missense mutation in ? oncogene predict resp of lung CA to gefitinib
Term describing BCR and ABL genes joining to form fusion gene

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