A healthy twenty-seven-year-old female presents to the physician for genetic counseling with her husband. They would like to become pregnant in the near future, but they have concerns that their offspring may develop cystic fibrosis. The wife's sister has cystic fibrosis, an autosomal recessive disorder with an incidence of approximately 1 in 90,000. The husband's history is noncontributory. what is the probability of the couple having an affected child? 1/90.000 1/300 οι οι οι οι 1/900 1/150 0.01

A healthy twenty-seven-year-old female presents to the physician for genetic counseling with her husband. They would like to become pregnant in the near future, but they have concerns that their offspring may develop cystic fibrosis. The wife's sister has cystic fibrosis, an autosomal recessive disorder with an incidence of approximately 1 in 90,000. The husband's history is noncontributory. what is the probability of the couple having an affected child? 1/90.000 1/300 οι οι οι οι 1/900 1/150 0.01

Name: genetics help part 10 A healthy twenty-seven-year-old female presents
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Description: genetics help part 10 A healthy twenty-seven-year-old female presents to the physician for geneticcounseling with her husband. They would like to become pregnant in the nearfuture, but they have concerns that their offspring may develop cystic fibros

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter10: From Proteins To Phenotypes

Section: Chapter Questions

Problem 3CS: A couple was referred for genetic counseling because they wanted to know the chances of having a...

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genetics help part 10

A healthy twenty-seven-year-old female presents to the physician for genetic
counseling with her husband. They would like to become pregnant in the near
future, but they have concerns that their offspring may develop cystic fibrosis.
The wife's sister has cystic fibrosis, an autosomal recessive disorder with an
incidence of approximately 1 in 90,000. The husband's history is
noncontributory.
what is the probability of the couple having an affected child?
1/90.000
ਨੇ ਨੇਂ। ।
1/300
1/900
1/150
0.01

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A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?
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