Explore chromosomal defects among humans in Ensembl at https://www.ensembl.org/index.html?redirect=no(Links to an external site.) Take a screenshot of one of your findings and describe the type of aberration and its associated phenotype. Identify the locus of gene variant(s) responsible for the disorder. Screenshot Name of chromosomal defect Type of aberration and locus of gene variant(s) Phenotype

Explore chromosomal defects among humans in Ensembl at https://www.ensembl.org/index.html?redirect=no(Links to an external site.) Take a screenshot of one of your findings and describe the type of aberration and its associated phenotype. Identify the locus of gene variant(s) responsible for the disorder. Screenshot Name of chromosomal defect Type of aberration and locus of gene variant(s) Phenotype

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations

Section: Chapter Questions

Problem 26QP: Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the...

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The karyotypes shown here depict chromosomal abnormalities. Name the syndromes and if they are male or female?
In drosophila, a recessive mutation (m-) of a maternal effect gene results in an abnormal phenotype wherein homozygous (m-m-) females produce eggs that cannot support embryonic development. Homozygous (m-m-) males, however, can still produce viable sperm. Using m+ to denote a normal gene, determine the genotypes and phenotypes of the F1s produce by a cross between a heterozygous female and a recessive male. From the offspring, backcross the recessive female with the paternal strain. What are the genotypes and phenotypes of the F2s? Show COMPLETE cross for both cases. If m-m- females produce useless eggs, then how are m-m- produced?
Explain the two major mechanisms by whichchromosomal rearrangements take place.
In Drosophila, three autosomal genes have the following map:20 m.u. 10 m.u.a b ca. Provide the data, in terms of the expected numberof flies in the following phenotypic classes, whena+ b+ c+/ a b c females are crossed to a b c / a b c males. Assume 1000 flies are counted and that nointerference exists in this region.a+ b+ c+a b ca+ b ca b+ c+a+ b+ ca b c+a+ b c+a b+ cb. If the cross was reversed, such that a+ b+ c+ / a b cmales are crossed to a b c / a b c females, howmany flies would you expect in the same phenotypic classes?
Describe the chromosomal alterations and phenotype of cri du chat syndrome and Prader-Willi syndrome.
Theodor Boveri predicted that malignancies would often be associated with chromosomal mutation. What lines of evidence substantiate this prediction?
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?
Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?
Miniature wings (Xm) in Drosophila result from an X-linked allele that is recessive to the allele for long wings (X +). Give the genotypes of the parents in each of the following crosses. Male parent Female parent Male offspring Female offspring a. long long 231 long, 250 miniature 560 long 250 miniature b. miniature long 610 long 632 long c. miniature long 410 long, 417 miniature 412 long, 415 miniature 417 miniature 415 miniature d. long miniature 753 miniature 761 long e. long long 625 long 630 long
In Drosophila melanogaster body color is controlled by one gene while wing shape is controlled by a second gene. Gray body color is dominant to black body color, and normal wings are dominant to vestigial wings. Flies homozygous for gray body color and vestiial wing are crossed with flies homozygous for black body color and normal wings Compare the possible F2generation genotypes and phenotypes and proportions if these two traits are autosomally linked in comparison to the non-linked How does your answer change if one of the original parents is homozygous for gray body color and normal wings while the other has black body color and vestigial wings
In drosophila, a recessive mutation (m-) of a maternal effect gene results in an abnormal phenotype wherein homozygous (m-m-) females produce eggs that cannot support embryonic development. Homozygous (m-m-) males, however, can still produce viable sperm. (A) Using m+ to denote a normal gene, determine the genotypes and phenotypes of the F1s produce by a cross between a heterozygous female and a recessive male. (B) From the offspring, backcross the recessive female with the paternal strain. What are the genotypes and phenotypes of the F2s? (C) If m-m- females produce useless eggs, then how are m-m- produced?
What the grandparents' genotypes are? Why doesn’t the father (II-1) have the disease breast cancer? What is the formal name for an individual having the gene but not showing the trait? For this particular family, what is the recombination rate between the D17S74 marker and the breast cancer gene?