In neurofibromatosis the phenotype does not always correspond to the genotype, what is this effect called and why may we observe this?

Q: Familial hypercholesterolemia (FH) is an inherited disorder in humans that is incompletely dominant.…

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

Q: Can you still have repeats of CAG without having Huntington’s Disease? AND Can you think of any…

A: Mutations are alterations in the DNA sequence of an organism. Small changes, such as adding or…

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: 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: Peter is a 28-year-old man whose father died of Huntington’s disease. Peter’s mother shows no signs…

A: The defect in the gene results in various disorders and this genetic disorder can be inherited from…

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: 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: What is the aid to determining whether observed results should be viewed as common or rare outcomes?

A: Observational studies are meant for only observation and not for interventions. They help in…

Q: How is prenatal diagnosis of Down syndrome achieved?

A: Genetic disorders result from chromosomal abnormalities like Down syndrome and Turner syndrome. A…

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: What is the physical basis of heredity? The chemical basis?

A: Heredity is the process of transfer of gene or genes or traits from the parent to the offsprings in…

Q: How can wolf hirschhorn syndrome progress or change?

A: Many cases of Wolf-Hirschhorn syndrome (WHS) (about 50-60%) are not inherited from a parent and are…

Q: Mention what are the important functions of autophagy? discuss briefly at your own words?

A: Autophagy also known as self eating, is the process by which the contents of the cytoplasm are…

Q: Discuss why X-linked disorders are more common thanY-linked disorders.

A: Inheritance or heredity is passing-on one trait from the parents to the progeny by either asexual or…

Q: Are Doppelgangers similar to twins? Explain

A: In all living organisms, the appearance and physical characteristics are contributed by the presence…

Q: What are the 3 types of Down syndrome?

A: Down syndrome is a kind of genetic disorder that results in developmental delays, intellectual…

Q: What is Down's syndrome? Give its symptoms and cause. Why is it that the chances of having a child…

A: Human genetic disorders are caused by the absence, excess, or abnormal arrangement of one or more…

Q: Explain what being intersexed is Describe the behavioral symptoms Describe the brain mechanisms…

A: The sex of an individual is determined by the chromosomes, gonads, external genitalia, internal…

Q: Huntington’s disease is a dominant disorder. Suppose that Kent and Alice are both heterozygous for…

A: Huntington's disease [HD] is a brain disorder. This disease is caused by the defective gene present…

Q: Can all components be identified in each beat? (Can you each wave, complex, segment, and interval?)…

A: ECG gives us information about the heart conditions. It is the graphical representation of the…

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 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: Does Alzheimer’s disease always have an autosomal dominant inheritance pattern?

A: Alzheimer's disease (AD), is a continuous neurodegenerative disease that generally begins slowly and…

Q: Describe two potential problems resulting frombleeding.

A: A bleeding disorder is a medical condition that creates a problem with the clotting of blood. After…

Q: Which of the following is a heterozygous dominant genotype? gg GG GGG Gg

A: Genetics is a study of genes, heredity, and genetic variation in an organism. Living organisms…

Q: What is syndrome ? Name three syndromes

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

Q: Mention what are the important functions of autophagy? discuss briefly

A: Process of autophagy, exocytosis, and endocytosis are very important for the cells because the…

Q: A woman who is a carrier for cystic fibrosis (CF), an autosomal recessive disorder, has children…

A: Cystic fibrosis is a genetic disorder which is caused by the mutation in the CFTR gene which codes…

Q: Can all components be identified in each beat? (Can you each wave, complex, segment, and interval?)…

A: ECG(Electro Cardiogram) graph shows us the heart systole and diastole that means heart contraction…

Q: If one person with the trait of Huntington's disease (H h) has 2 children with a partner who does…

A: INTRODUCTION Huntington's disease It is an inheritable disease in which nerve cells in the brain…

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: e-effect curve that is marked by the X is known as:

A: Dose effect curve is defined as the relationship between a given drug dose and its response. In this…

Q: Give some examples for down syndrome

A: Genes are housed in chromosomes, which are structures. Numerical or structural chromosomal…

Q: Briefly describe the three stages of the general adaptation syndrome.

A: Introduction: The three-stage GAS process outlines the physiological adjustments the body makes in…

Q: What is the chance for each child to have Huntington's disease? Are the 3 events (the children…

A: a. What is the chance for each child to have Hungtington's disease? As the disease is dominant each…

Q: Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children…

A: Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. Here, we have to select the…

Q: genetic” disorder,

A:

Q: effects of the sickle cell disease(inheriting two copi

A: Sickle cell disease is a type of inherited disease. It is caused by a defective gene. When a baby…

Q: what are the types of down syndrome

A: Down syndrome is a condition in which a person has an extra chromosome. people with Down syndrome…

Q: explain what is Down syndrome?

A: Genetic disorder are caused due to the absence or excess or abnormal arrangement of one or more…

Q: what level of organization does the manifestation of hereditary information take

A: Living organisms have a particular organisation according to the complexity of an organism. For…

Q: What would be the phenotypes for each of the following genotypes for Huntington’s Disease? a.  Hh =…

A: Neurodegenerative diseases are a diverse group of disorders. They have a progressive degeneration…

Q: If a woman is heterozygous for neurofibromatosis (a dominant disorder) and produces with a…

A: Neurofibromatosis (NF1) is hereditary disease (which can be passed on from one generation to…

Q: Are all forms of Down syndrome due to non-disjunction?​YES​​​ or NO​?

A: Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or…

Q: What is the most likely mode of transmission of the trait? autosomal dominant

A: Mode of Inheritance predicted by Pedigree -- A pedigree represent family members and relationships…

Q: Describe the cause and effect of Down syndrome.

A: Introduction:- genetic chromosome 21 disorder causing developmental and intellectual delays. Down's…

Genomic studies

Genomic studies (genomics) is the study of the whole genome of an organism. Using bioinformatics and high-performance computing, genomic researchers examined massive amounts of deoxyribonucleic acid (DNA)-sequence data to discover variations or mutations that affect drug response, health, or disease. Genomics is a much younger discipline than genetics, having only emerged in the last few decades as a result of technological advancements in DNA sequencing and computational biology.