Science Quiz / Block8c Genetics

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Can you name the Block8c Genetics?

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

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