Concept explainers
- Match the genetic disorder to the descriptions below:
- Edward Syndrome
- Jacob Syndrome
- Patau Syndrome
- Turner Syndrome
- Prader-Willi Syndrome
- Down Syndrome (trisomy)
- Klinefelter Syndrome
- Cri du Chat
- 18-Q Deletion Syndrome
- Translocation Down Syndrome
________ deletion of part of the P arm of chromosome 5. Improperly developed
larynx causes cat-like cry until age 2. IQ is under 20.
________ deletion of Q arm of chromosome 15. Affected individuals have a small
head, are retarded, and exhibit bizarre behavior.
________ deletion of Q arm of chromosome 18. Affected individuals have thirteen
pairs of ribs (normal is 12 pairs) and IQ under 30.
________ extra 21st chromosome attaches to chromosome 14. Affected individ-
uals exhibit epicanthic folds of eyelids, simian crease in palms, and
retardation.
________ trisomy 18. Affected individuals have an elongated skull, hair lip, cleft
palate, and rocker-bottom feet. Life expectancy is about 10 weeks.
________ trisomy 21. Affected individuals exhibit epicanthic folds of eyelids,
protruding tongue, small, low-set ears, and retardation.
________ 47 chromosomes; XXY karyotype. Affected individuals have low levels
of testosterone, enlarged breasts, small testicles, and are
male.
________ 47 chromosomes; XYY karyotype. These males appear to be normal
although some display slight differences in their EEG patterns.
________ 45 chromosomes; XO karyotype. These individuals are phenotypically
female but have streak ovaries and no ova are produced and they do
not menstruate. This is the only survivable disorder involving a
chromosome number less than 46.
________ trisomy 13. Affected individuals have Microencephaly, microphthalmia,
and most die shortly after birth.
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- Match the following terms with their correct definitions. A change in a gene that causes it to produce no protein. A loss-of-funtion in one allele that is uominant because the wild type allele alone does not produce enough protein to serve its typical role. 1. Loss-of-function mutation 2. Null mutation 3. Gain-of-function mutation A change in a gene that causes it to produce less protein or protein that is not able to serve its typical role. 4. Haploinsufficiency A change in a gene that causes it to produce increased protein or protein that takes on a new role.arrow_forwardJonah and Jana are siblings. Jonah has the genetic disorder cystic fibrosis, caused by inheriting one copy from each parent of a mutation in the CF gene. Jana does not have cystic fibrosis. Which of the following statements is/are true? (Select all that are true) a)Jana does not have the gene that when mutant causes cystic fibrosis. b)Jana has the gene that when mutant causes cystic fibrosis. c)Jana has two copies of the allele that causes cystic fibrosis. d)Jana does not have two copies of the allele that causes cystic fibrosis.arrow_forward2: Chart v Add-ins Media Links Comment Footer Page Numb Header Screenshot v Cystic fibrosis is a hereditary illness causing respiratory issues and recurrent lung infections. It is a recessive disorder (c). Using the details below, fill in the Punnett square to determine probability of an offspring having cystic fibrosis. Mother Father -does not -does not have have cystic cystic fibrosis fibrosis genotype Cc -genotype Cc Mother Father Probability of offspring having cystic fibrosis: ada)arrow_forward
- Part A One result of X-linkage is a crisscross pattern of inheritance in which sons express recessive genes of their fathers and daughters express recessive genes of their mothers. O True O False Submit Provide Feedback Request Answer Copyright © 2023 Pearson Education Inc. All rights reserved. | Terms of Use | Privacy Policy | Permissions | Contact Us | View?assignment ProblemID=10436487&offset=next MacBook Pro P Pearson or tyne URL Next >arrow_forwardA defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system neurodegenerative disease that most often affects infants, though older children and adults can have late-onset forms of the disease. The defective gene prevents the body from making a protein called hexosaminidase A. Without, hexosaminidase A, chemicals called gangliosides build up in the nerve cells of the brain, destroying brain cells. Pedigree information regarding the incidence of Tay-Sachs within a family is depicted above. The row below that indicates the genotypes of individuals II-1, II-2, and III-1 is Select one: a. II-1 II-2 III-1 Aa Aa aa b. II-1 II-2 III-1 XAY XAXa XAXa c. II-1 II-2 III-1 XAY XAXA XaXa d. II-1 II-2 III-1 AA aa Aaarrow_forwardJonah and Jana are siblings. Jonah has the genetic disorder cystic fibrosis, caused by inheriting two mutant alleles of the CFTR gene (the gene that when mutant causes cystic fibrosis) - one allele was inherited from each parent. Jana does not have cystic fibrosis. Which of the following statements is/are true? Jana does not have the CFTR gene. Jana has two copies of the CFTR gene. Jana has at least one copy of the non-mutant allele of the CFTR gene. Jana has two copies of the mutant allele of the CFTR gene.arrow_forward
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