Term
| Is it more important for a geneticist to treat the patient or to come to a final diagnosis? |
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Definition
| to come to a final diagnosis, not to treat the patient |
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Term
| What is the routine use of genotypic analysis, usually in the form of DNA testing, to enhance the quality of medical careWhat is |
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Definition
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Term
What is it called when constructing a family history?
How many generations? |
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Definition
Pedigree
at least 2 generations |
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Term
| What is the study of abnormal form (Evaluation of child (adult, fetus) with unusual facial characteristics +/- other abnormal findings in an effort to reach a genetic (syndrome) diagnosis)? |
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Definition
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Term
| What are the indications for a genetics consultation? |
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Definition
Multiple major anomalies (Remember: mental retardation and growth failure are major anomalies)
One major anomaly with multiple minor anomalies
Multiple minor anomalies (The “FLK”-funny looking kid)
Isolated condition with known/suspected genetic basis
Family history |
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Term
| mental retardation and growth failure are considered (major/minor) anomalies? |
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Definition
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Term
| Why is it important for a geneticist to make a diagnosis? |
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Definition
Prognosis (course of the disease)
Management
Recurrence risk counseling
Access support groups
NOT cure/treat them |
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Term
| How do you identify a genetic syndrome? |
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Definition
Look for other problems in patient and family members
-Major and minor anomalies
-Both similar and seemingly unrelated |
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Term
| What are some of Geneticist's tools to identify a genetic syndrome? |
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Definition
Personal and family history, and dysmorphologic physical exam
-Focusing on minor anomalies |
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Term
| Are minor anomalies generally concerning? |
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Definition
| minor anomalies are generally not concerning (if isolated)Bir, but if they are accompanied by a growth abnormality or poor development (major anomaly) they are concerned |
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Term
| What is the leading cause of neonatal morbidity and mortality? |
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Definition
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Term
| Birth defects is in ____% of all newborns |
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Definition
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Term
| What are the 4 types of birth defects? |
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Definition
Deformation
Disruption
Dysplasia
Malformation |
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Term
| Are all birth defects genetic? |
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Definition
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Term
What is it when the developmental process is normal but mechanical force alters structure (once factor is removed it can become normal again)?
Is it something to worry about? |
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Definition
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Term
| What is the interruption of normal development, usually vascular, due to an extrinsic factor. If you remove the factor, the tissue still does not develop normally |
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Definition
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Term
| What is it when defects do not follow anatomic lines/asymmetry? |
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Definition
| Amniotic band sequence (type of disruption) |
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Term
| What is an anomaly of specific type of tissue (usually affects single tissue)? |
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Definition
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Term
| Osteogenesis Imperfecta, Achondroplasia, Cleidocranial dysplasia are examples of what type of dysplasia? |
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Definition
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Term
| Marfan syndrome, Ehler Danlos syndrome are examples of what type of disorder? |
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Definition
| Connective tissue disorder (dysplasia) |
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Term
What is it when the developmental process is abnormal (problem in the final structure) that affects many tissues due to possibly mutant gene(s), teratogen (smoking, alcohol, folate deficiency), stochastic (random variable).
What is an example of this? |
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Definition
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Term
| What is a recognizable pattern of anomalies that are pathogenetically related |
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Definition
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Term
| If a patient comes in with long bone overgrowth, joint laxity, eye, and cardiac problems, you would expect this person to have? |
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Definition
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Term
Marfan syndrome has complete or incomplete penetrance?
Diagnosis requires how many criteria (long bone overgrowth, joint laxity, eye, & cardiac)?
What kind of birth defect is this? |
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Definition
complete penetrance (will always have symptoms)
requires 2 criteria, plus some involvement of third
syndrome |
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Term
In Marfan's syndrome, what is the major cardiovascular problem?
What are some other criterias? |
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Definition
dilated aortic root
Skeletal (needs at least 4- protruding chest, decreased upper/lower seg or increased arm span/height, scoliosis, flat feet, inward protrusion of hip joint)
Ocular-dislocated lens
Family history-independent diagnosis in 1st degree relative |
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Term
If the genetic test for Marfan's is negative, does that always mean that patient does not have the condition?
Does the location of the mutation predict the phenotype? |
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Definition
No- 10% can be negative but because of clinical findings, the diagnosis is positive/differential diagnosis (something else)
No |
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Term
| What disease is similar to Marfan's (similar body habitus, lens dislocation) but is different with stiff joints, malar rash, and mental retardation? |
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Definition
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Term
| What involves skeletal dysplasia, easy fracturing, other connective tissue findings, blue sclera, hearing loss, dental problems, and the type of disease depends on the type of mutation/inheritance (autosomal dominant)? |
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Definition
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Term
| What is a series of abnormalities (symptoms and signs) derived from a single pathogenetic event (original problem causes 2nd problem, and then 3rd problem) |
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Definition
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Term
| What is the Pierre Robin sequence? |
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Definition
| Micrognathia --> cleft palate --> glossoptosis (tongue upwards and backwards) causes U shaped palate |
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Term
| What syndrome can present with Pierre Robin sequence (cleft palate) and problems with structures that involve collagen (myopia-eyes, arthritis, hearing loss) with autosomal dominant and recessive forms |
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Definition
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Term
| What are the 3 patterns of birth defects? |
|
Definition
Syndrome
Sequence
Association |
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Term
| What is a constellation of findings that occur more commonly together than would be expected by chance alone |
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Definition
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Term
| What are 2 most common associations? |
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Definition
CHARGE-Coloboma, Heart defect, Atresia choani, Retarded growth and development, Genital anomalies, Ear anomalies/ deafness
VA(C)TER(L)-Vertebral defects, Anus, imperforate, Cardiac defects, T-E fistula, Renal, Limb (Hydrocephalus) |
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Term
| Using comparitive genome hybridization (CGH), deletions on 8q12 was identified in a (VA(C)TER(L) or CHARGE) patient? |
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Definition
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Term
| What is Trisomy 21 also known as? |
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Definition
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Term
| What are the 3 ways causes a Trisomy 21? |
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Definition
Non-disjuction trisomy (94%) (85% due to maternal non-disjunction in Meiosis I)
Trisomy with some mosaicism
Translocation (D/G or G/G) |
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Term
| What is it called when there is a problem in the separation of the chromosomes when the germline is being formed. (one egg carries extra X chromosome) Advanced maternal age is a risk factor. |
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Definition
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Term
| What is it called when after the egg is fertilized there is a problem in disjunction, some cells have extra chromosome 21, some have normal = milder form of condition |
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Definition
| trisomy with some mosaicism |
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Term
| What is it called when the child just has an extra portion of the 21 chromosome/partial trisomy due to the way the genetic material was rearranged from the parents? |
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Definition
| Translocation (families with balanced translocation have higher risk of having children with Trisomy 21) |
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Term
| If a baby has a flat nasal bridge, brachydactyly (short fingers), thyroid problems, slanted palpebral fissures, an upturned nose, low set ears, single palmar crease, and sandle toe, what disorder does this baby most likely have? |
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Definition
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Term
| What are some problems with Down's people as they age? |
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Definition
Obesity
loss of hearing
hypothyroidism
Celiac disease
dementia |
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Term
| What is the prenatal test to screen for trisomy disorder? |
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Definition
| fetal DNA in maternal blood |
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Term
| Why is it not common to see Trisomy 18 and 13 in the clinical setting? |
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Definition
| 90% of cases don’t make it to the end of their 1st yea |
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Term
| If a baby is small in size, hypertonic neuro, *short sternum, malformed ears, and *CLENCHED HANDS with overlapping fingers, heart problems, tracheoesophageal fistulas, prominent heels* what disorder do you expect this baby to have? |
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Definition
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Term
| Is there a milder phenotype of Trisomy 18? |
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Definition
Yes- Mosaicism and partial Trisomy 18
Milder phenotype, longer survival |
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Term
| If a baby small in size, small head, *cleft lip and palate, clenched handshypertonic neuro, problems with genitals, kidney, and congenital heart, what disorder do you expect this baby to ahve? |
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Definition
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Term
| What is a lesion that is common in trisomy 13? |
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Definition
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Term
| List the order from most common to least common in Trisomy 13, Trisomy 21, Trisomy 18 |
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Definition
Most common:
Trisomy 21 --> Trisomy 18 --> Trisomy 13 (least common) |
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Term
| Is there mosaicism in Trisomy 13? |
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Definition
| Yes-Mosaicism with less severe phenotype (different portion = different phenotype) |
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Term
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Definition
| Klinefelter syndrome (47) |
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Term
| If a male was taller than average, reduced facial/body hair, feminine fat distribution, gynecomastia (breasts/obesity), small testes (didn't finish puberty, not enough testosterone), no mental retardation but psychosocial difficulties, you would expect this person to have? |
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Definition
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Term
| In Klinefelter's, they tend to have _____ (enlarged pulp, thin surface) and have a higher incidence of developing ____ cancer |
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Definition
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Term
| If a girl has short stature, low hairline, webbed neck, small fingernails, ovarian failure, cystic fibroma on neck, lots of nevi (moles), heart defect (bicuspid aorta or constriction of the aorta), doesn't complete puberty. What would you expect this girl to have? |
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Definition
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Term
| What is the 2nd most common aneuploidy found in conceptions? |
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Definition
| 45, X Turner syndrome (ONLY in females!) |
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Term
If you have a deletion on the 15 chromosome coming from the father, do you have Prader-Willi or Angelman?
deletion from mother?
What is this a form of? (developing condition depending upon where the deletion comes from) |
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Definition
If it comes from the father you’re going to have Prader-Willi. (Remember: Spanish word for father is padre. So you get Prader syndrome from your padre.)
If the deletion comes from the mother you’re going to have Angelman.
Imprinting |
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Term
| Microdeletions can be easily diagnosed using what technique that uses one labeled probe (if it doesn't attach to specific region, there's a deletion there) |
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Definition
| FISH (Fluorescence in situ hybridization) |
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Term
| What is the syndrome caused by the deletion of the long arm on chromosome 22? |
|
Definition
| Velocardiofacial syndrome (VCFS) or DiGeorge syndrome |
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Term
Can you diagnose Velocardiofacial syndrome by looking at them?
What are some of the main clinic manifestations? |
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Definition
No- must do FISH to confirm
Characteristic facial appearance
Congenital cardiovascular disease
Speech, cognitive delays
Psychological and behavioral problems |
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Term
| What is the main gene that is present in all of the DiGeorge's syndrome deletion? |
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Definition
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Term
| What technique is used to scan all of the chromosomes using multiple probes? |
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Definition
| Comparative genome hybridization (CGH) |
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Term
| What technique is it when you compare the patient DNA with the control DNA (same sex, same age) and looking for missing/extra material? |
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Definition
| Array comparative genome hybridization |
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Term
| Is the main concern for the MinION USB stick the price, the technology, or the analysis of the information? |
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Definition
| The analysis of the information is what takes a lot of effort. Trying to put that information in the patient context and figure out if that information is relevant for the patient or not |
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Term
| Why is WED not ready for (clinical) primetime? |
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Definition
| it’s not a good technique if you have large missing parts of the chromosomes (will not detect all genetically determined diseases) |
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Term
| What is it called when a condition might look genetic but is not (may be caused by alcoholism, retinoids, etc)? |
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Definition
| Pseudo genetic inheritance (phenocopies) |
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Term
Valproic acid embryopathy causes?
Retinoids causes?
Alcoholism during pregnancy?
Eating too much? |
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Definition
Trisomy 18
Familial DiGeorge
Familial MR/dysmorphia
Familiar obesity |
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Term
| What are the general rules for distinguishing between genetic and epigenetic (environment, stochastic) factors for a disorder? |
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Definition
more severe, more “genetic” influence
less frequently affected sex, more “genetic” |
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Term
| If pyloric stenosis is mostly common in males but you see a female with it, is it a genetic or epigenetic disorder? |
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Definition
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Term
| If a mother of HPE (holoprosencephaly)/SHH has low cholesterol, that is a considered an _________ |
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Definition
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