. Human geneticists interested in the effects of abnormalities in chromosome number often karyotypetissue obtained from spontaneous abortions. About35% of these samples show autosomal trisomies,but only about 3% of the samples display autosomalmonosomies. Based on the kinds of errors that cangive rise to aneuploidy, would you expect that thefrequencies of autosomal trisomy and autosomalmonosomy should be more equal? Why or why not?If you think the frequencies should be more equal,how can you explain the large excess of trisomiesas opposed to monosomies?
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: Common red clover, Trifolium pratense, is a diploidwith 14 chromosomes per somatic cell. What…
A: Ploidy is the change in the number of chromosomes among organisms. It can be distinguished into two…
Q: In humans, chromosome 16 sometimes has a heavily stained area in the long arm near the centromere.…
A: Nondisjunction means failure of pair of homologus chromosome to separate or segregate either during…
Q: A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement…
A: The type of chromosomal abbretion in given figure is Translocation.
Q: In humans, the number of chromosomes per set equals 23. Eventhough the following conditions are…
A: Chromosomes are the thread like structures which contains packed DNA present inside the nucleus of a…
Q: There is an autosomal gene in cats that controls whether or not they also have white patches of fur…
A: As you have not mentioned the previous ques I have solved the question with given data
Q: In humans, chromosome 16 sometimes has a heavily stained area near the centromere. This feature can…
A: So, non disjunction of the chromosomes occurs in the condition when the homologous chromosomes fail…
Q: I. Give the chromosome number and chromosome configuration if the following mutations occurred in…
A: As per the guidelines, we are supposed to answer only three sub-parts. Kindly repost the question…
Q: 2. Uniparental disomy is a rare phenomenon in whichonly one of the parents of a child with a…
A: Hello! Since you have posted multiple questions, we are answering only first two questions. If you…
Q: An animal is heterozygous for two autosomal genetic traits found on different chromosomes. Purple…
A: The chromosome with the centromere near the end of the chromosome rather than in the middle. And…
Q: 6. A person is simultaneously heterozygous for two autosomal genetic traits. One is a recessive…
A: (a) Figure of the metaphase of mitosis is as follows:
Q: what is the probability that he might be a carrier of the recessive gene?
A: Cystic fibrosis is associated with the CFTR gene that encodes a protein that helps thin the mucous…
Q: A couple planning their family are aware that through the pastthree generations on the husband’s…
A: All the 46 chromosomes carry important information for the growth and development of the embryo. If…
Q: Human sex-linked disorders in which male children are affected and female children are carriers are…
A: Sex-linked or X-linked disorders mainly affect the males. Some sex-linked disorders are colour…
Q: In 1995, doctors reported a Chinese family in whichretinitis pigmentosa (progressive degeneration of…
A: Since you have posted a question with multiple sub-parts, we are answering only first one for you.…
Q: 7. Below is a pedigree for a family in which some members have achondroplastic dwarfism, This trais…
A: *Autosomal dominant inheritance is a genetic condition taht can be passed from parent to child that…
Q: When analyzing a normal human male karyotype, all of the chromosomes can be sorted into homologous…
A: Genetics is a study of genes, heredity, and genetic variation in an organism. Living organisms…
Q: Both hemophilia (h) and favism (gd) are inherited as X-linked recessive traits. Hemophilia is an…
A: The alleles are the alternative forms of a gene that are located on the same locus of a homologous…
Q: I. In humans, chromosome 16 sometimes has a heavilystained area in the long arm near the centromere.…
A: The process of transmission of characteristics from parents to their offspring is known as…
Q: Tay-Sachs disease is caused by loss of function mutation in a gene on chromosome 15 that codes for…
A: Tay-Sachs disease is a rare inherited disorder and this is due to mutation occurring in HEX A gene…
Q: crossing over within a pericentric inversion produces chromosomes that have extra copies of some…
A: Chromosomes having extra copies or no copies of genes are produced by crossing over within a…
Q: A couple planning their family are aware that through the pastthree generations on the husband’s…
A: The karyotype banding analysis is the test that is done in a person's DNA for finding the normal and…
Q: Dekaylen umber of human diseases result from chromosomal abnormalities. Individuals with cri du chat…
A: Cri-du-chat syndrome, often called 5p- (five p minus) syndrome, is a chromosomal disorder caused by…
Q: Explain why autosomal aneuploidy is generally more deleterious than aneuploidy for sex chromosomes.
A: Genetics is a branch of science that deals in the study of genes, heredity, and genetic variation of…
Q: The discovery of chromosome banding in eukaryotes has greatly improved our ability to distinguish…
A: Polymorphism is usually known as the discontinuous genetic diversity that occurs among members of a…
Q: Explain why small deletions and duplications are less likely tohave a detrimental effect on an…
A: A mutation is a permanent change in the DNA of a cell such that the sequence deviates from what is…
Q: A cytogeneticist has collected tissue samples from members of acertain butterfly species. Some of…
A: In the question, there are two groups of butterflies given: the Canadian and Mexican and they were…
Q: Progeny of triploid tomato plants often contain parts of an extra chromosome, in addition to the…
A: Triploidy is a rare chromosomal abnormality in which the organism has an extra chromosome in their…
Q: Describe the imbalance in gene products that occurs in an individual with monosomy 2.
A: Chromosomes are carrier of deoxyribonucleic acid (DNA). DNA is the genetic material. Each species…
Q: Which of the following statements is FALSE about deletions? O it can cause Cri du Chat syndrome O…
A: A deletion is the absence of a portion of one chromosomal arm. To take out the intervening section,…
Q: 2. Uniparental disomy is a rare phenomenon in whichonly one of the parents of a child with a…
A: Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or part of a…
Q: As a genetic counselor, you may face some ethical dilemmas.Imagine that a couple came to your office…
A: Difference between sex chromosomes and autosomal chromosomes: Sex chromosomes of a person carry sex…
Q: aneuploidies in autosomal chromosomes likely to cause more severe phenotypes compared to…
A: Chromosomal abnormality or alteration is a change in the sequence of the chromosome. These…
Q: Bloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey…
A: A disease is a state of unhealthiness of the physical body, mind and social interaction. A disease…
Q: Pedigree 4: A. What mode of inheritance supports the pattern of this disease in this family? Choose…
A: A pedigree is a schematic representation of a family which depicts the inheritance of the trait…
Q: Consider two hypothetical recessive autosomal genesa and b, where a heterozygote is testcrossed to a…
A: Two hypothetical recessive autosomal genes a and b. a heterozygote is testcrossed to a double…
Q: Chorionic villus sampling is a procedure to determine if there are any abnormalities in chromosome…
A: Chorionic villus sampling is also used for the same purpose. Chorion is basically a membrane that…
Q: .Certain forms of human color blindness are inherited as X-linkedrecessive traits. Hemizygous males…
A: Color blindness is defined as the inability of the person to distinguish between colors, especially…
Q: Pedigree 3: NOTE: the asterisk (*) indicates that the individual does not have any disease-related…
A: "Genetics" is the study of the functioning and main codes of variation and heredity. Inheritance is…
Q: In Drosophila, a cross (cross 1) was made between twomutant flies, one homozygous for the recessive…
A: Homozygous organisms are those that have two identical alleles. These can either be dominant or…
Q: Ectrodactyly is a rare condition in which the fingers are absent and the hand is split. This…
A: A pedigree chart is a family tree that depicts the genetic representation of inheritance of a…
Q: Cystic fibrosis in humans is caused by mutations in a single gene and is inherited as an autosomal…
A: Cystic fibrosis is caused due to mutation in gene that codes for the protein Cystic fibrosis…
Q: Here is a karyotype made from cancer cells. Which of the following abnormalities can be detected?…
A: A karyotype is the representation of an individual's/organism's complete set of chromosomes. These…
Q: A tomato geneticist attempts to assign five recessivemutations to specific chromosomes by using…
A: SECONDARY trisomics, or persons who have one isochromosome in addition to their regular somatic…
Q: unction which can affect sex chromosomes as well as autosomal chromosomes as a common cause of…
A: Nondisjunction: Failure of paired chromosomes to separate (to disjoin) throughout the cellular…
Q: 1. A man with a rare genetic trait marries an unaffected woman and they have four children (first…
A: Father is affected and mother is unaffected. Mother is neither a carrier nor is affected by the rare…
Q: Hi, could your please answer this question? I'm so confused. The following diagram (picture added)…
A: Introduction Translocation means a change in location. It frequently refers to genetics, when part…
Q: From 2 to 6 percent of people with autism have an extra chromosome that consists of two long arms of…
A: Isodicentric 15 It is also called idic15 and inverted duplication 15. It is an chromosome…
. Human geneticists interested in the effects of abnormalities in chromosome number often karyotype
tissue obtained from spontaneous abortions. About
35% of these samples show autosomal trisomies,
but only about 3% of the samples display autosomal
monosomies. Based on the kinds of errors that can
give rise to aneuploidy, would you expect that the
frequencies of autosomal trisomy and autosomal
monosomy should be more equal? Why or why not?
If you think the frequencies should be more equal,
how can you explain the large excess of trisomies
as opposed to monosomies?
Trending now
This is a popular solution!
Step by step
Solved in 4 steps
- A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What if the couple wanted prenatal testing so that a normal fetus could be aborted?A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?
- Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) What kind of chromosomal aberration is shown?A young lady requested pre-marital genetic counselling because her sister had died in infancy of gangliosidosis, an autosomal recessive disease. What is the risk that this young lady has similarly affected offspring? What advice should be given?
- Retinoblastoma can be seen as a familial cancer, inherited in an autosomal recessive manner (RB-/RB-), individuals heterozygous for the RB+ and RB- alleles can develop tumor as a result of… A mitotic crossover that leads to homozygosity for RB+ in some cells and RB- in other cells A meiotic mutation in the RB+ allele that leads to homozygosity for RB+ A somatic mutation in the RB- allele that leads to homozygosity for RB+ The fact that RB- is dominant to RB+A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement?A young couple is planning to have children. Knowing that there have been a substantial number of stillbirths, miscarriages, and fertility problems on the husband’s side of the family, they see a genetic counselor. A chromosome analysis reveals that, whereas the woman has a normal karyotype, the man possesses only 45 chromosomes and is a carrier of a Robertsonian translocation between chromosomes 22 and 13. Q. If trisomies and monosomies entailing chromosomes 13 and 22 are lethal, approximately what proportion of the surviving offspring are expected to be carriers of the translocation?
- Consider two hypothetical recessive autosomal genesa and b, where a heterozygote is testcrossed to a doublehomozygousmutant. Predict the phenotypic ratios underthe following conditions:(a) a and b are located on separate autosomes.(b) a and b are linked on the same autosome but areso far apart that a crossover always occurs betweenthem.(c) a and b are linked on the same autosome but are soclose together that a crossover almost never occursDuring the pathoanatomic inspection of a baby-boy's dead body the following abnormalities: polydactily, microcephaly, a cleft lip and cleft palate, hypertrophy of the parenchymal organs were found. These symptoms are typical of Patau syndrome. What is the cause of this disease? Select one: a. Trisomy on the 21st chromosome. O b. Trisomy on the 18th chromosome. c. Trisomy on the 13th chromosome. d. Trisomy on X chromosome. e. Monosomy on X chromosome.Familial Down syndrome is similar to primary Down syndrome in that it is caused by trisomy 21. However, in familial Down syndrome, all or part of the third copy of chromosome 21 has translocated onto another autosome, typically chromosome 14. In cases of familial Down syndrome, one of the parents of the affected child is often a carrier of a translocated chromosome. The translocation carrier parent does not have Down syndrome because he or she has a total of two copies of chromosome 21. Suppose that a woman is a translocation carrier of chromosome 21 on chromosome 14. She conceives six zygotes with a man who carries no aneuploidies. Match the description of the chromosomes inherited by each zygote with the viability and phenotype of the zygote. ✓ Two normal copies of 14, two normal copies of 21 two normal copies of 21, one normal copy of 14 ✓one normal copy of 14, one 21 to 14 translocation, one normal copy of 21 ✓two normal copies of 14, one normal copy of 21, on 21 to 14…