A girl and a boy were born to a young married couple. The girl is absolutely healthy. The examination of the boy's karyotype has shown 46 chromosomes. But one of the chromosomes of the 15th pair is longer than normal as a part of a chromosome from the 21st pair has joined it. How many autosomes and sex chromosomes are in the boy's karyotype? Name the type of the mutation. Is it possible to consider this pathology an inherited disorder?

Q: an human is born with 45 chromosomes, what type of mutation occurred within this individual?

A: Human beings have 22 pairs of autosomal chromosomes and 1 pair of sexual chromosomes. Autosomes…

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: In humans, chromosome 16 sometimes has a heavily stained area near the centromere. This feature can…

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Q: Campomelic dysplasia (CMD1) is a congenital humansyndrome featuring malformation of bone and…

A: Campomelic dysplasia is a rare genetic disorder characterized by bowing of the long bones and many…

Q: I have a doubt, I'm not sure if the chromosomes are a boy or a girl? Or if the chromosomes have any…

A: Monosomy is an aneuploidy in which only one of a pair of chromosomes is present. When a section of…

Q: When a female melanotic fly is crossed with a normal male, the progeny are produced: 123 normal…

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Q: Prader-Willi syndrome and Angelman syndrome

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Q: Below is a pedigree from one family (two parents and eight children). Four of the children…

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Q: Bloom's Syndrome is an autosomal recessive disorder due to mutations in a helicase protein. Some of…

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Q: Pedigree information regarding the incidence of Tay-Sachs within a family is depicted above. The row…

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A: Mutation refers to sudden heritable change in the phenotype of an individual. In the molecular term,…

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: A pedigree lists a father as the proband for a genetic disorder that he inherited from his mother.…

A: Inherited disorders are genetic conditions that are passed down from parents to their offspring…

Q: Explore chromosomal defects among humans in Ensembl at…

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Q: Considering the following chromosome which is represented as a series of genes on each arm separated…

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

A: Tay-Sachs disease is an inherited disorder that results in progressive destruction of nerve cells in…

Q: Chromosomal Abnormalities Name of Number of Classification of Affected Description autosomes and…

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Q: Melanoma, 45| Colon cancer, 40 Sarcoma, 45 Breast cancer, 32 Lung cancer, 53 Stomach cancer, 50…

A: A pedigree is a hereditary representation of family tree by displaying in the form of diagrams which…

Q: How many genetic variants are there?

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Q: The Klinefelter syndrome (disomy of the X chromosome in males) is a genetic disease caused by…

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Q: What is a Pericentric inversion?

A: The chromosomes are the thread like structure that contains hereditary information in the form of…

Q: nd explain it using the following headings: O Name of disorder ) type of variation in chromosome…

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Q: During the pathoanatomic inspection of a baby-boy's dead body the following abnormalities:…

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Q: Why is the incidence of survivable genetic disorders involving deletions of parts of chromosomes so…

A: Deletions are the genetic aberrations or mutations in which a sequence of DNA or a segment of a…

Q: Define inversions

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Q: Following X-chromosome inactivation, most of the genes on theinactivated X chromosome are silenced.…

A: Females have two copies of the X chromosome, producing a double dose of X-linked genes. The…

Q: the deletion of which chromosome causes obvious morphological and mental defects in the organism,…

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A: answer given below

Q: Edwards Syndrome is a genetic condition in which a person has three copies of chromosome 18. This…

A: Ans. Edward syndromes (which are referred to as trisomy 18), are a syndrome of chromosome defects…

Q: What type of genetic disorder has occurred if there is missing  chromosome five?

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Q: Group of answer choices Statement 1 is correct. Statement 2 is incorrect

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Q: Which genetic disease is caused by the dysfunction of the 13th chromosome?

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Q: What is the chromosome abnormality in cri du chat syndrome?

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Q: Consider a Droscophilia fly with a genotype of Nn XqYY

A: Drosophila is a model organism commonly known as the fruit fly.

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Q: An STR on chromosome 5 is very closely linked to a gene involved in a dominant metabolism disorder…

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Q: An STR on chromosome 9 is immediately adjacent to a gene involved in a dominant blood disorder (only…

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Q: 13) Use the image below of the X and Y sex chromosomes of a human to answer the following question.…

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Q: Please consider the figure below, parts A and B. A В 部 蹈器 Gene B Gene C Gene B Normal Gene A…

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Q: With detailed accounts of their various forms, explain any three of the following chromosomal…

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Q: The wild-type (normal) fruit fly, Drosophila melanogaster, has straight wings and long bristles.…

A: Introduction Gene is known as hereditary factor which controls all the characters in living organism…

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.