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Author Question: Your 2-year-old patient shows facial features, such as epicanthal folds, up-slanted palpebral ... (Read 114 times)

lunatika

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Your 2-year-old patient shows facial features, such as epicanthal folds, up-slanted palpebral fissures, single transverse palmar crease, and a low nasal bridge. These are referred to as:
 
  A. Variable expressivity related to inherited disease
  B. Dysmorphic features related to genetic disease
  C. De novo mutations of genetic disease
  D. Different penetrant signs of genetic disease

Question 2

The leading causes of death in the United States are due to:
 
  A. Multifactorial inheritance
  B. Single gene mutations
  C. X-linked disorders
  D. Aneuploidy



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nicoleclaire22

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Answer to Question 1

ANS: B
Assessing for dysmorphic features may enable identification of certain syndromes or genetic or chromosomal disorders (Jorde, Carey, & Bamshad 2010; Prichard & Korf 2008). Dysmorphology is defined as the study of abnormal physical development (Jorde, Carey, & Bamshad 2010, 302).

Answer to Question 2

ANS: A
Most disease-causing conditions are not due to a single-gene disorder but are due to multifactorial inheritance, a result of genomics and environmental or behavioral influences. In fact, the leading causes of mortality in the United Statesheart disease, cerebrovascular disease, diabetes, and cancerare all multifactorial. Most congenital malformation, hypertension, arthritis, asthma, obesity, epilepsy, Alzheimer's, and mental health disorders are also multifactorial.





 

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