A couple has a child with neurofibromatosis. They come to your genetic counseling office for help. After taking an extensive family history, you determine that there is no history of this disease on either side of the family. The couple wants to have another child and wants to be advised about the risks of that child having neurofibromatosis. What advice do you give them?

Q: Children with this condition has the following features: wide or web-like neck; low-set ears; broad…

A: There are various different kinds of genetic abnormalities that are found in Humans. Some defects…

Q: disease, its prevalence and options. As a genetic counselor, your next responsibility is to take a…

A: Cystic fibrosis is a severe life threatening disease that affects the lungs, digestive system and…

Q: Guinevere decides to trace the inheritance of her blood type through her family, all the way back to…

A: There are four kinds of blood group according to the antigens present in them. A- antigen a B-…

Q: Heather has “short fingers” (brachydactyly).She has two older brothers who are identical twins; both…

A: Genetics has a lot of applications. One such application is the prediction of a genetic disorder…

Q: The frequency of spina bifida (SB) in the US is 0.002. John has married Mary. There is no family…

A: International occurrence. The average worldwide incidence of spina bifida is 1 case per 1000 births,…

Q: The fraternal birth order effect, in which the number of brothers a boy's mother carried before him…

A: Introduction  Birth order refers to the position of a child in a family relative to their siblings.…

Q: What are newest advances in early diagnosis and confirmation of Huntington disease? Explain the…

A: Huntington disease is progressive neurological disorder which leads to complication of emotional…

Q: In a particular family, children of a diseased mother are all affected, and their maternal…

A: Defective genes cause such mutations or disorders that run down the family and members. Such…

Q: A woman who is eight (8) weeks pregnant requests a direct test for Huntington’s disease on her…

A: Huntington's disorder is an autosomal dominant genetic disorder. It causes the breakdown of the…

Q: a) What is the genotype for the woman, man and each of their parents? b) This couple unexpectedly is…

A: The genotype of the women is XsX because the women is normal but carrier and the men is XY because…

Q: The father of three sons and two daughters begins to show symptoms of Huntington's disease. What is…

A: The mode of inheritance is a pattern of obtaining parentral alleles  or genes to the offsprings. The…

Q: suspected

A: Abstract  Past research demonstrates a phenotypic relationship between childhood mal treatment and…

Q: couple contemplating a pregnancy are in today for an appointment at a genetic counselling clinic to…

A: Fragile X chromosome is a genetic condition in which varied developmental disorders are present in a…

Q: Fitz was found to be a carrier for the deltaF508 mutation in cystic fibrosis (autosomal recessive).…

A: Cystic fibrosis is an inherited disease that severely affects the digestive system, lungs, as well…

Q: True/False There are three root operations for the extracorporeal or systemic assistance and…

A: True. The extracorporeal or systemic assistance and performance section has three root operations,…

Q: Describe the relationships between family history and breast cancer

A: Cancer is a condition in which the cells undergoes continuous cycle without stopping and doesn’t…

Q: Mrs. Ortez has type III breast cancer and is now concluding the trial portion of a certain research…

A: Stage III breast cancer is a stage where the cancer has spread beyonf the tumor region and might…

Q: The following clinical scenario contains (4) choose-between-two options: An 11-year-old boy with a…

A: There are different types of diseases. Diseases may be caused due to infections, mutations,…

Q: How is coding for mental, behavioral, and neurodevelopmental disorders different from other…

A: Mental, behavioral, and neurodevelopmental disorders are a group of conditions that affect a…

Q: Answer the question(s) in reference to the five disorders listed below: Affected males tend to be…

A: A genetic disorder is a condition caused by an abnormality or mutation in an individual's DNA or…

Q: Omar and Aleema are expecting a baby and discover they are both carriers for the autosomal recessive…

A: Sickel cell anemia is disorder of blood where yhe red blood cells are irreguliriay shaped (cresecnt…

Q: Having dimples (D) is dominant over not having dimples (d). A dimpled woman (whose father had no…

A: According to guidelines we have to answer the first 3 sub-parts only. so please kingly post the…

Q: If someone has Marfan syndrome, what are their genotypes? If that person has children who do NOT…

A: Marfan syndrome is a systemic connective tissue disorder. It is caused by the mutation of…

Q: What pattern does the genetic disorder follow

A: Introduction Sickle cell anaemia is a type of sickle cell illness that is passed down the…

Q: a) explain why a diagnosis of ASD is not possible in young babies. b) Given the current…

A: Diagnosis of ASD is not possible in young babies.The reasons are shown below.Behavioral indicators…

Q: Please find an Image/Graphic to represent sickle cell disease: Use at least two different images to…

A: A picture or graphic must be found to depict sickle cell illness. To better comprehend the…

Q: Mrs. Xexy Lucero, G0, who is planning to become pregnant tells Nurse Sasha, "I am scared. My brother…

A: In this question asked about the response of the nurse to the patient.  Detailed solution in step 2.…

Q: Aaron, a 3-month-old boy, was just diagnosed with a rare genetic immunodeficiency condition. Aaron's…

A: Case summary The patient is a 3-month-old boy named Aaron who has been diagnosed with a rare…

Q: Based on the testing outcome, give your opinion on whether you think Cystic Fibrosis is a dominant…

A: Cystic fibrosis is a genetic disease in which CFTR gene is  mutated. This gene codes a protein…

Q: What is genetic disorders? Explain by giving an example.

A: Genetics is described as the branch of biology that focuses on the study of genes, their…

Q: K.S. comes for a clinic visit to determine whether she is pregnant. She is very concerned because…

A: To get the remaining sub-parts solved, please repost the complete question and mention the…

Q: Neurofibromatosis type 1 (NF1) is an inherited is an inheritent dominant disorder. The phenotype…

A: Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord,…

Q: Present a note on : Breast Cancer: The Ambiguities and Ethics of Genetic Testing

A: Genetic testing is the method by which one understand or test for genes or genome of an individual…

Q: Huntington disease (HD) is a genetic disorder that usually first appears in middle age and, over…

A: Huntington disease (HD) is a progressive brain disorder that causes uncontrolled movements,…

Q: As a genetic counselor, you inform Susan and John that a blood test for cystic fibrosis is…

A: A genetic counselor assesses the risk of having various inherited conditions.  For example, the…

Q: Explain the following diagram. It refers to a pedigree on the disease called phenylketonuria.…

A: Phenylketonuria is an inherited disorder that increases the levels of a substance called…

Q: Autosomal Dominant is a mutation in one copy of the gene. It is inherited from an affected parent or…

A: One of the ways a genetic trait or a genetic condition can be inherited. In autosomal dominant…

Q: “The one common denominator for all of the young children [with autism] is that early intervention…

A: Temple Grandin said that, “The one common denominator for all of the young children [with autism] is…

Q: Cathy is pregnant for the second time. Her first child, Donald, has cystic fibrosis. Cathy has two…

A: Cystic fibrosis is an autosomal recessive disorder. A genetic (inherited) condition known as cystic…

Q: disorder called that leads to weakened, brittle bones. causes defective collagen disorder called…

A: An autosomal recessive disorder means two copies of an abnormal gene must be present in order for…

Q: genetic” disorder,

A:

Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.