Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Textbook Question
Chapter 6, Problem 13QP
As a physician, you deliver a baby with protruding heels and clenched fists with the second and fifth fingers over-lapping the third and fourth fingers.
- a. What genetic disorder do you suspect the baby has?
- b. How do you confirm your suspicion?
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A couple contemplating a pregnancy are in today for an appointment at a genetic counselling clinic to identify and interpret their risk of an inherited disorder. The nurse explains during teaching that all the following are characteristic features of fragile X chromosome of a 3-year-old male child EXCEPT:
a. Macroorchidism
b. Autistic behavior
c. Intellectual disability
d. Characteristic facial features
e. Hyperextensible finger joints
You met with two parents whose first child has sickle cell anemia. (The parents show no signs of the disease themselves). The mother comes to you in the third month of her second pregnancy, and wants to know if this child will also inherit the disease. As a genetics counselor, you are ready to evaluate this couple’s case by doing the following:1. Determine what the genotype of each parent is. Is this disease autosomal or sex-linked? Dominant or recessive?
K.S. comes for a clinic visit to determine whether she is pregnant. She is very concerned because she suspects there may be a genetic disease in her family. On further questioning, you find out that her brother’s son has the disorder. Her brother’s other children (a boy and a girl) are unaffected. K.S.’s parents, grandparents, and other siblings (a brother and two sisters) do not have manifestations of the disorder. Her brother’s wife has said that she thinks one of her distant relatives may have had the disease.
Discussion Questions
If the disorder is indeed inherited as a single-gene defect, do you think it is autosomal dominant, autosomal recessive, or X linked? Justify your answer.
Construct a pedigree chart and predict the likelihood that K.S. has the defective gene.
Chapter 6 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 6 - Genetics in Practice case studies are...Ch. 6 - Genetics in Practice case studies are...Ch. 6 - Analyzing Karyotypes 1. Originally, karyotypic...Ch. 6 - Given the karyotype shown at right, is this a male...Ch. 6 - A colleague e-mails you saying that she has...Ch. 6 - What are the two most commonly used methods of...Ch. 6 - Prob. 5QPCh. 6 - Discuss the following sets of terms: a. trisomy...Ch. 6 - What chromosomal abnormality can result from...Ch. 6 - Tetraploidy may result from: a. lack of...
Ch. 6 - A cytology student believes he has identified an...Ch. 6 - An individual is found to have some tetraploid...Ch. 6 - A spermatogonial cell undergoes mitosis before...Ch. 6 - A teratogen is an agent that produces nongenetic...Ch. 6 - As a physician, you deliver a baby with protruding...Ch. 6 - Variations in Chromosome NumberAneuploidy Describe...Ch. 6 - A woman gives birth to monozygotic twins. One boy...Ch. 6 - Assume that a meiotic-nondisjunction event causes...Ch. 6 - Prob. 17QPCh. 6 - What is the genetic basis and phenotype for each...Ch. 6 - The majority of nondisjunction events leading to...Ch. 6 - Prob. 20QPCh. 6 - If all the nondisjunction events leading to Turner...Ch. 6 - Identify the type of chromosomal aberration...Ch. 6 - Describe the chromosomal alterations and phenotype...Ch. 6 - A geneticist discovers that a girl with Down...Ch. 6 - Albinism is caused by an autosomal recessive...Ch. 6 - Fragile-X syndrome causes the most common form of...
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