What is Apert syndrome? Are there variations of this genetic disorder? What are the symptoms and complications? What is the diagnosis? What are the carriers (genes)? What is it like for someone living this way?

Q: Which of the following disorders is not caused by a single gene defect? a. Diabetes b. Clediocranial…

A: *Diabetes is a chronic disease that occurs when pancreas does not produce enough insulin a harmone…

Q: If there is no treatment for albinism, what is the status of research on this genetic disorder?…

A: Introduction :- Albinism is an uncommon set of hereditary illnesses characterised by a lack of…

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: What is Patient A's karyotype? A. Down syndrome B. Patau syndrome C. Klinefelter syndrome D.…

A:

Q: Dentinogenesis imperfecta is a rare, autosomal, dominantly inherited disease of the teeth which…

A: Dentinogenesis imperfecta can affect both primary teeth and permanent teeth.

Q: proposed marriage to a nonpolydactylous, astigmatic, blue-eyed, and curly-haired lady whose mother…

A: Astigmatism is an eye illness in which the cornea or lens curvature is altered, resulting in blurred…

Q: Which of the following terms is used to describe any substance, such as a drug, chemical, or virus,…

A: The fetus takes everything from the mother. It is attached to the placenta through a cord-like…

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: Which characteristics are associated with Duchenne muscular dystrophy? O Y-linked genetic…

A: Genetics is the study of genes and their normal morphology and functioning , gene is the basic unit…

Q: Please explain Androgen Insensitivity Syndrome (ALS). What is the phenotype of these individuals?…

A: The common etiology of aberrant sexual development, androgen insensitivity syndrome, results in a…

Q: Fragile X syndrome What are the symptoms or characteristics of this disorder or trait?  What is…

A: Fragile X syndrome   Fragile X syndrome (FXS) is a disorder which causes mainly mental and…

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

Q: Jacob and Patau Syndromes List the similarities and differences between these two syndromes. Which…

A: Jacob syndrome: Also known as XYY syndome/ XYY karyotype/ YY syndrome Patau syndrome:  Also known as…

Q: Why is the chances of having a child with down's syndrome increases if the age of mother exceed…

A: Down’s syndrome is basically an autosomal genetic disorder that is caused by trisomy at chromosome…

Q: Why do most cases of Down syndrome originate from the mother? And how is this linked to maternal age…

A: Down syndrome also called "trisomy 21" is a condition in which a child is born having an additional…

Q: Cleft lip and cleft palate can be a devastating congenital disorder. Please explain why this…

A: A congenital disorder is an inherited medical disorder that occurs in a baby at or before birth.…

Q: Prepare a chart that identifies the characteristic features of the following disorders: Down…

A: Introduction- Down syndrome is genetic chromosomal congenital abnormality resulting from trisomy of…

Q: Two carriers of the sickle cell disease gene reproduce. What are the possible outcomes for their…

A: Sickle cell anemia: Vernon Ingram in 1957 demonstrated that sickle cell anemia is caused due to the…

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Q: Explain the following methods of clocal sexing

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Q: What is syndrome ? Name three syndromes

A: Disease is defined as any deviation from the normal physiologic function or structure of organism.…

Q: The figure below shows part of a family tree in which an inherited coagulopathy occurs. Analyze the…

A: Pedigree analysis is used to determine the possibility of genetic diseases in individuals or the…

Q: A 16-year-old girl appealed to the genetic consultation. She complains about menstruation absence.…

A: Introduction There are various genetic disorders that develop due to anomalies in sex chromosomes.…

Q: Define the genetic disorder Huntington's disease and the mode of inheritance (Dominant, Recessive,…

A: Answer 1 : Huntington's diseases is the condition in which the nervous cells breaks in the brain…

Q: Describe the following facial malformations and embed an image for each type of malformations of the…

A: In this question asked about the facial malformations.  According to bartleby guidelines I have…

Q: What is the phenotype of the genetic disorder?   2. How does it express itself? 3. Does it cause…

A: according to bartleby guidelines, I can answer only first three, kindly repost the remaining…

Q: A man with haemophilia (h) marries a woman who does not manifest the disorder, but who is a carrier…

A: Normal male - XHY Haemophilic male - XhY Normal female - XHXH Carrier female - XHXh Haemophilia…

Q: What is the common cause of the syndromes mentioned below? only pick one and why. a. Williams…

A: A syndrome is defined as a group of symptoms that can appear together. The syndrome is characterized…

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: 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: 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: Which three factors are crucial in the diagnosis of genetic defects in the fetal stage? What do you…

A: Between the embryonic period and birth, a fetus is a prenatal human being. The fetal stage lasts…

Q: Which of the following methods might have a clue whether child suffering from genetic disease a was…

A: Genetic diseases are the diseases in evict there is either mutation in the DNA itself is if there…

Q: Achondroplasia is a dominant form of dwarfism. Jim is a heterozygous dwarf and his wife is of…

A: Achondroplasia is the condition of the autosomal dominant trait, which results in dwarfism. It…

Q: Autism: Describe the following for autism : the heredity patterns, pedigree does the disease/…

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

A: Introduction :- Astigmatism is a disorder in which your eye, particularly your cornea (the clear…

Q: What is Patient C's karyotype? A. Last song syndrome B. Trisomy 21 C. Marfan syndrome D. Patau…

A: A karyotype is a collection of a species' or an individual organism's full set of metaphase…

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

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Q: hat is the genetic basis and phenotype for each of the following disorders: a) Edwards syndrome b)…

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A: Introduction In Genetics, Recombination Is The Fundamental Process For Introducing Variation Into…

Q: correct the following sentences If one parent has sickle cell anemia and other has carrier genotype…

A: Sickle cell anaemia is a genetic disorder of blood in which the shape of red blood cells changes to…

Q: What is Patient B's karyotype? A. Klinefelter syndrome B. Trisomy 13 syndrome C. Down syndrome…

A: Introduction : Karyotype : Karyotype is a representation of  complete set of metaphasic chromosome…

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: Define these pairs of terms, and distinguish between them. Patau syndrome/Edwards syndrome

A: Some chromosomal disorders are caused due to change in the number of chromosomes in the offspring.…

Q: According to information from the following three cases, what conclusion can you make regarding the…

A: The clinical manifestation of a disease is subjective when it is perceived by the patient or may be…

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.