Term
| A good example of how autosomal dominance works can be seen in |
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Definition
| brown eyes and curly hair |
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Term
| In autosomal inheritance, the odds of inheriting an AD trait or condition from one parent is 1 in 2 or 50% for each offspring, regardless of the parent or offspring's sex T/F |
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Definition
|
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Term
In AD inheritance, there can be widely variable phenotypic presentation of traits or conditions even within the same family
T/F |
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Definition
|
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Term
| Autosomal recessive and AD inheritance involve a trait carried via |
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Definition
|
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Term
Blue eyes and straight hair are good examples of typical AR inheritance
T/F |
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Definition
|
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Term
| In AR inheritance, the odds of being an affected individual are: |
|
Definition
|
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Term
| AD and AR inheritance are genetic mechanisms found only in the transmission of defective or mutated traits and conditions T/F |
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Definition
|
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Term
In AD and AR mechanisms, male and female usually carry the same risk of inheritance
T/F |
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Definition
|
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Term
In AR inheritance, the risk of carrier status for each offspring of carrier parents is 50% and the risk of being neither a carrier nor affected is 25%
T/F |
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Definition
|
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Term
All risks for AD and AR inheritance are rarely the same for each pregnancy
T/F |
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Definition
|
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Term
| In X-linked recessive inheritance, the unaffected carriers are: |
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Definition
|
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Term
X-linked conditions affect both sexes to the same degree
T/F |
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Definition
|
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Term
Females can not be affected by X-linked recessive conditions
T/F |
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Definition
|
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Term
Male to male inheritance is common in X-linked conditions
T/F |
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Definition
|
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Term
Each male offspring of female carriers of X-linked conditions has a 50% chance of inheritance
T/F |
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Definition
|
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Term
Each female offspring of fathers affected by X-linked dominant conditions will be affected
T/F |
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Definition
|
|
Term
| The most likely condition to be incompatible with life (often resulting in miscarriage) is found in: |
|
Definition
| X-linked dominant in males |
|
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Term
|
Definition
| in every cell of the body |
|
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Term
The age of onset and severity of mitochondrial conditions are directly proportional to the amount of mutated mitochondria present in any individual
T/F |
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Definition
|
|
Term
| Mitochondrial conditions: |
|
Definition
| differ among siblings in the amount of mutated mitochondria transmitted |
|
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Term
Mitochondrial diseases often result in some kind of AVS abnormality
T/F |
|
Definition
|
|
Term
Mitochondria are inherited through the maternal line because male mitochondria are in the neck and tail of the sperm, which fall off at fertilization
T/F |
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Definition
|
|
Term
| If the first offspring born to carrier parents is affected by an AR trait, the next offspring: |
|
Definition
| also has a 25% chance of exhibiting the AR trait, 50% chance of being a carrier and 25% chance of not inheriting those AR genes |
|
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Term
| Autosomally inherited traits or conditions transmit through: |
|
Definition
|
|
Term
| Inheriting dominant syndromes or traits requires: |
|
Definition
|
|
Term
| Recessive inheritance requires: |
|
Definition
| two genes for the same trait |
|
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Term
| The AV component of complex inherited syndromes involving many organ systems is: |
|
Definition
| barely known and rarely recognized by audiologists and other healthcare providers |
|
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Term
| In dominant syndromes, phenotype is: |
|
Definition
|
|
Term
| The overall embryology of the ear is completed: |
|
Definition
| in the last phase of pregnancy |
|
|
Term
| Embryology timetable for the human ear is: |
|
Definition
| similar to mouse embryology |
|
|
Term
| Specific genes that have been shown to be related to human ear development are found also in: |
|
Definition
|
|
Term
| Connective tissue as found in the human ear is: |
|
Definition
| found in several other organ systems |
|
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Term
| Most of the critical connective tissue involved in the AV system derive from: |
|
Definition
|
|
Term
| The syndromic conditions involving hearing or other auditory pathology are found primarily in those conditions associated with: |
|
Definition
| many combinations of organ system anomolies |
|
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Term
| Most syndromes involving audiovestibular loss or damage are due to: |
|
Definition
| genetic transmission of mendelian traits |
|
|
Term
| Heritability of AV defects can be found in: |
|
Definition
| several hundred conditions and every type of AV deficit |
|
|
Term
Changes in the integumentary system is highly correlated with AV defects
T/F |
|
Definition
|
|
Term
| Syndromes involving mid-facial structural anomalies are most likely to present with: |
|
Definition
| middle ear or mixed HL of variable severity |
|
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Term
| Individuals with diffuse, progressive neurologic disorders might be likely to demonstrate abnormal: |
|
Definition
|
|
Term
| In multiple sclerosis, audiologic results are |
|
Definition
| highly variable, even within the same subject |
|
|
Term
NFI and NFII are really the same disorder, even though they are found on 2 different chromosomes
T/F |
|
Definition
|
|
Term
| Hearing and/or balance problems are often seen in individuals with syndromes involving primarily the: |
|
Definition
|
|
Term
| If a pt with HL presents with musculoskeletal symptoms, the following procedures are likely to contribute to a better understanding of the disorder: |
|
Definition
| detailed studies of middle ear function |
|
|
Term
| When an individual presents with stigmata suggesting HL associated with a complex syndrome, the audiologist should always: |
|
Definition
| take an in-depth family history |
|
|
Term
| Understanding the nature and extent of the AV system function or dysfunction will generally: |
|
Definition
| facilitate patient habilitation/rehabilitation |
|
|
Term
| Genetic syndromes or conditions that include AV deficits: |
|
Definition
| generally require collaboration with other healthcare providers |
|
|
Term
| When evaluating a pt with newly developed neurological symptoms, the audiologist must: |
|
Definition
| find out as much as possible about the conditions under consideration and select audiologic studies targeted to those possible diagnoses |
|
|
Term
| In managing genetic HL syndromes, the audiologist must understand: |
|
Definition
| how the AV system can herald or signal changes in other organ systems |
|
|
Term
| AV deficits associated with hereditary syndromic conditions characteristically: |
|
Definition
| require regular audiologic follow-up and re-examination |
|
|
Term
| Referring pts for special genetic studies: |
|
Definition
| may be indicated if a pt's symptoms have not yet been diagnosed |
|
|
Term
| Genetic experts such as clinical geneticists, etc are: |
|
Definition
| frequently important allies in the audiologic pt care and management |
|
|
Term
| Managing pts with genetic syndromes involving AV dysfunction will increasingly require audiologists to: |
|
Definition
| understand modern genetics and audiology's relationship with it |
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