Fragile X syndrome What are the symptoms or characteristics of this disorder or trait?  What is the prevalence of the trait or disorder? What are the main genetic factors?    Have environmental factors been shown to influence the expression of this disorder?  And to what degree?

Q: As a genetic counselor, you are asked to assess the risk for a couple with a family history of…

A: Familial adenomatous polyposis is an inherited disease that is autosomal dominant and results in…

Q: Suppose that a female with the mutation (i.e., a heterozygous female) mates with a healthy male (the…

A: Alleles are the alternative forms of a gene that are located on the same locus of a homologous…

Q: Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that…

A: Phenylketonuria is an inborn error of metabolism which happened due to decreased or low metabolism…

Q: A defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system…

A: Given: A pedigree. A defective gene on chromosome 15 causes Tay-Sachs disease. Individual III - 1 -…

Q: nheritance of one mutant allele of BRCA1 is associated with 70-80% lifetime risk of developing…

A: BRCA1 is a tumor suppressor gene inactivation leads to breast cancer.

Q: X-linked lissencephaly is an X-link dominant trait pertaining to a brain disorder. It superficially…

A: Given information Lissencephaly is an X-linked dominant trait Mr. Panganiban is affected by the…

Q: Identify the specific mode of inheritance. 1.) Mae is affected with the disease phenylketonuria…

A: Hi, Thanks For Your Question.  1.) Mae is affected with the disease phenylketonuria (PKU). The PKU…

Q: Junctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the…

A: Junctional epidermolysis bullosa is type of skin disorder in which blisters develop on the skin of…

Q: Give the phenotypic effects and chromosomal aberrations of the following syndromes/disorders: Down…

A: DOWN SYNDROME. Down syndrome is the most common chromosomal disorder due to the autosomal trisomy of…

Q: A. What are the genotypes of the following:  Jane: ______________________ James:…

A: Given  G6PDD (g)  = X-linked recessive condition. Fragile X syndrome (F) = X-linked dominant…

Q: A polydactylous, normal-visioned, brown-eyed man with wavy hair has a nonpolydactylous, blue-eyed…

A: Hi! Thanks for your question. As you have posted multiple sub-parts and have not mentioned which…

Q: Tay Sach's disease results from a mutation in the hexosaminidase A gene.  Heterozygotes are normal.…

A: Correct option is recessive lethal .

Q: Canavan disease in an autosomal recessive disorder caused by mutations in the gene that codes for…

A: Given the day disease is an autosomal recessive disorder. We can solve this by assuming that the…

Q: Sex-linked inheritance

A: Introduction : Glucose-6-phosphate dehydrogenase deficiency/G6PDD (g) is an X-linked recessive…

Q: A possible explanation for the increased incidence of Tay-Sachs disease among Ashkenazi Jews is

A: Tay Sachs is a rare autosomal recessive disorder that causes mental and physical disabilities…

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: Bombay effect.

A: The Bombay effect is a phenomenon depicted by the H antigen, which is responsible for the expression…

Q: Club foot is one of the most common congenital skeletal abnormalities, with a worldwide incidence of…

A: Given data: Club foot is autosomal dominant trait with incomplete penetrance. It’s caused by PITXI…

Q: A couple intends to have children but consults a genetic counselor because the man has a sister with…

A: PKU or Phenylketonuria is a genetic disorder. It is a metabolic disorder in which there is a…

Q: A man in his early 30s suddenly developed weakness in hishands and neck, followed weeks later by…

A: Based on the age of onset and the severity of the symptoms, the DM1 (myotonic dystrophy type 1)…

Q: In Ingested poisoning and carbon monoxide poisoning, are there any measures that could prevent this…

A: Note: since you have asked multiple questions, as per our honor code, we are answering the first one…

Q: Constructing and Using a Pedigree Duchenne's muscular dystrophy (DMD) is a well known, lethal…

A: A pedigree chart is a graphic that depicts the incidence and emergence of phenotypes of a gene or…

Q: SUBJECT-GENETICS TOPIC: Inheritance Related to Sex Identify some form of abnormalities wherein it…

A: Genetic abnormalities - Genetic abnormalities are conditions caused by changes to the genes or…

Q: polydactyly is an abnormality characterized by webbing between partially or completely duplicated…

A: Given: Need to explain the  abnormality characterized by webbing between partially or completely…

Q: For sickle cell anemia: a) Description of the phenotype b) Description of the genetics of…

A: Sickle cell anemia is one of a group of disorders known as sickle cell disease. Sickle cell anemia…

Q: Junctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the…

A: Junctional epidermolysis bullosa (JEB) is type of skin disorder in which blisters develop on the…

Q: Tuberous Sclerosis (TS) is an autosomal dominant genetic disease characterized by seizures, mental…

A: Tuberous sclerosis is a rare autosomal dominant disease that causes non-cancerous tumors in various…

Q: A young woman is referred for genetic counseling. She has a 3-year-old with developmental delay and…

A: Introduction:-  Fragile X syndrome is a syndrome having features of mental retardation ,facial…

Q: A man in his early 30s suddenly developed weakness in hishands and neck, followed weeks later by…

A: Myotonic dystrophy (DM) is the second most frequent type of muscular dystrophy. In the most severe…

Q: Ch. 13-7 Mutations in the TYR gene may render its enzyme…

A: A record of inheritance of certain genetic traits for two or more generations presented in the form…

Q: Each of the four types of structural chromosomal mutations is illustrated below. Label each picture…

A: Chromosomal rearrangements are the type of mutations which causes a change in the gene sequence of…

Q: Fragile X syndrome why is interesting Fragile X syndrome  What are the symptoms or characteristics…

A: As per our policy, We are answering only question first 5. For the rest of the questions please…

Q: A boy with Klinefelter syndrome (47,XXY) is born to a motherwho is phenotypically normal and a…

A: Klinefelter syndrome is a genetic abnormality in which there are three sex chromosomes with two X…

Q: 1. (a)genes with similar function     orthologous genes     paralogous genes     pseudogenes…

A: INTRODUCTION Answer of question 1 part a and b is given below.

Q: Duchenne muscular dystrophy describe the function of the gene and gene product as well as the…

A: Duchenne muscular dystrophy (DMD) is a genetic disorder, in which progressive muscle degeneration…

Q: avoid or ameliorate the down syndrome? If your answer is no cure can give me a treatment that held…

A: Chromosomal abnormality It is a deviation in structure or number of chromosomes and consequences.…

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: Phenotypic expression of a given locus can be suppressed or enhanced by the mutation at a second…

A: Mutation is any change that occurs in the DNA sequence and can alter the expression of gene which…

Q: A man in his early 30s suddenly developed weakness in hishands and neck, followed weeks later by…

A: Introduction  A genome is consisting of transcriptionally active genes. These genes form mRNA as…

Q: A woman diagnosed with early-onset Alzheimer's due to a mutation of the APP genehas children with a…

A: Azheimer's disease (AD) is a neurodegenerative disorder characterized by progressive dementia and…

Q: mutation in the TCOF1 gene causes up to 93% of Treacher Collins syndrome cases. This gene, which is…

A: Treacher Collins syndrome is caused due to either a mutation on the TCOF1 gene present on chromosome…

Q: Person A and person B are both worried they are going to develop a neurodegenerative disease.…

A: Parkinson's disease is the neurodegenerative disease which is caused by the imbalance in…

Q: Angelica just learned that her paternal uncle, Aaron, passed away from hypertrophic cardiomyopathy…

A: There are few important points about autosomal dominant inheritance: Trait should not skip…

Q: Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that…

A: Genetic disease is caused due to chromosomal aberrations or mutation in the specific genes. Most of…

Q: All of the following human genetic diseases exhibit maternal inheritance EXCEPT: A. Leber's…

A: Maternal inheritance is a pattern in which the genes from the mother is inherited to the offsprings.…

Q: A defective gene on chromosome 15 causes Tay-Sachs disease

A: A pedigree is a representation of inheritance of traits across generations in a family.

Q: From this information, Niemann-Pick disease is an example of: A) variable expressivity B)…

A: The branch of science which deals with the the study of heredity and variations is called genetics.…

Stress

Stress is defined as the feeling of being overwhelmed or unable to cope with emotional or mental pressure. Any event or action that makes a person annoyed, furious, or nervous can trigger it. Chemical changes in the body caused by stress can cause blood pressure, blood sugar levels, and heart rate to rise.