LIVE V eressily each description according to whether it applies to monosomy or trisomy. If a description applies to both, drag it into both categories. Labels Missing one chromosome from a pair Results from nondisjunction Has an extra chromsome within a pair Down syndrome G Reset All Monosomy (1/2) Trisomy (2/2)
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- A normal female is discovered with 45 chromosomes, one ofwhich exhibits a Robertsonian translocation containing most ofchromosomes 18 and 21. Discuss the possible outcomes in heroffspring when her husband contains a normal karyotype.For each of the following types of chromosomalaberrations, tell: (i) whether the chromosomes of anorganism heterozygous for the aberration will formany type of loop during prophase I of meiosis;(ii) whether a chromosomal bridge can be formedduring anaphase I in a heterozygote, and if so, underwhat conditions; (iii) whether an acentric fragmentcan be formed during anaphase I in a heterozygote,and if so, under what conditions; (iv) whether theaberration can suppress meiotic recombination; and(v) whether the two chromosomal breaks responsible for the aberration occur on the same side or on opposite sides of a single centromere, or if the two breaksoccur on different chromosomes.a. Reciprocal translocationb. Paracentric inversionc. Small tandem duplicationd. Robertsonian translocatione. Pericentric inversionf. Large deletionA diploid species has four chromosomes per set for a total of eightchromosomes in its somatic cells. Draw such a cell as it wouldlook in late prophase of meiosis II and prophase of mitosis. Discuss how prophase of meiosis II and prophase of mitosis differfrom each other, and explain how the difference originates.
- Is it more indicated for ageneticist desiring to map theX chromosome of the motherof a given family (theresearcher does not haveaccess to her DNA, only accessto the genetic material of theoffspring) to analyze thechromosomes of herdaughters or of her sons?On rare occasions, people are born with a condition known as uniparental disomy. It happens when an individual inherits both copies of achromosome from one parent and no copies from the other parent. Thisoccurs when two abnormal gametes happen to complement each otherto produce a diploid zygote. For example, an abnormal sperm thatlacks chromosome 15 could fertilize an egg that contains two copies ofchromosome 15. In this situation, the individual has maternal uniparental disomy 15 because both copies of chromosome 15 were inheritedfrom the mother. Alternatively, an abnormal sperm with two copies ofchromosome 15 could fertilize an egg with no copies. This is known aspaternal uniparental disomy 15. If a female is born with paternal uniparental disomy 15, would you expect her to be phenotypically normal,have Angelman syndrome (AS), or have Prader-Willi syndrome(PWS)? Explain. Would you expect her to produce normal offspring oroffspring affected with AS or PWS?On rare occasions, an organism may have three copies of achromosome and therefore has three copies of the genes on thatchromosome (instead of the usual number of two copies). Forsuch a rare organism, the alleles for each gene usually segregateso that a gamete will contain one or two copies of the gene. Let’ssuppose that a rare pea plant has three copies of the chromosomethat carries the height gene. Its genotype is TTt. The plant is alsoheterozygous for the seed color gene, Yy, which is found on adifferent chromosome. With regard to both genes, how manytypes of gametes can this plant make, and in what proportions?(Assume that it is equally likely that a gamete will contain oneor two copies of the height gene.)
- In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction formA 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? (b) Using a drawing, demonstrate how these chromosomeswould pair during meiosis. Be sure to label the differentsegments of the chromosomes.(c) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement? The woman in above problem has had two miscarriages. Shehas come to you, an established genetic counselor, with thesequestions:(a) If not, what is the chance that she could have a normalchild? Provide an informed response to her concernsA 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? (b) Using a drawing, demonstrate how these chromosomeswould pair during meiosis. Be sure to label the differentsegments of the chromosomes.(c) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement? The woman in above problem has had two miscarriages. Shehas come to you, an established genetic counselor, with thesequestions:(a) Is there a genetic explanation of her frequent miscarriages?
- The karyotype of a young girl who is affected with familialDown syndrome revealed a total of 46 chromosomes. Her olderbrother, however, who is phenotypically unaffected, actually had45 chromosomes. Explain how this could happen. What wouldyou expect to be the numbers of chromosomes in the parents ofthese two children?is the same chrosome type of the parent and daughter cells after mitosis an indication that they are identical? explainBriefly explain what 2n=12 means in terms of mitosis and meiosis.