The following describe several genetic conditions to whichcertain genetic terms apply. Could you please evaluate eachcondition and decide which genetic term applies? Please write theterm under each description and underline the key information inthe paragraph that supports the term. The same term may not be usedtwice. (5 points each)
For example: An adult male with myotonic dystrophy hascataracts, frontal balding, and hypogonadism, in addition tomyotonia. This supports pleiotropy because multiple tissues andorgans were affected by the same mutation.
Choice of terms: Variable expressivity, Consanguinity,Inbreeding, X-linked dominant inheritance, New mutation, Allelicheterogeneity, Locus heterogeneity, Autosomal incompletely dominanttrait
a. Retinitis pigmentosa occurs in X-linked and autosomalforms.
b. A couple with normal vision, from an isolated community,have a child with autosomal recessive gyrate atrophy of the retina.The child grows up, marries another member (with normal vision) ofthe same community, and has a child
with the same eye disorder.
A child has severe neurofibromatosis (NA child has severeneurofibromatosis 1 (NF1). Her father is phenotypically normal; hermother seems clinically normal but has several large café au laitspots and areas of hypopigmentation, and slit-lamp examinationshows that she has a few Lisch nodules (hamartomatous growths onthe iris).
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