Science Quiz / Block8c Genetics

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Can you name the Block8c Genetics?

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

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