A patient has mental deficiency, a short stature, and the mongolian type of the eyelid fold. The microscopical examination of the patient's karyotype revealed the presence of trisomy on the 21-st chromosome. What do we call the disease which is caused by this chromosomal abnormality? Select one: O a. Down's syndrome. O b. Klinefelter's syndrome. O c. Turner's syndrome. d. Edward's syndrome. O e. Patau syndrome.

A patient has mental deficiency, a short stature, and the mongolian type of the eyelid fold. The microscopical examination of the patient's karyotype revealed the presence of trisomy on the 21-st chromosome. What do we call the disease which is caused by this chromosomal abnormality? Select one: O a. Down's syndrome. O b. Klinefelter's syndrome. O c. Turner's syndrome. d. Edward's syndrome. O e. Patau syndrome.

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter12: Genes And Cancer

Section: Chapter Questions

Problem 1QP: Theodor Boveri predicted that malignancies would often be associated with chromosomal mutation. What...

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Which of the following is the most common type of chromosomal disorder? O a. Kleinfelter's Syndrome O b. Cri-du-Chat Syndrome O c. Edward's Syndrome С. O d. Patau Syndrome O e. Turner's Syndrome
During 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.
Theodor Boveri predicted that malignancies would often be associated with chromosomal mutation. What lines of evidence substantiate this prediction?
List the diagnostic features (genetic or cytological) that are used to identify these chromosomal alterations:a. Deletionsb. Duplications
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 form
A young man went to the doctor because he had small testes and enlarged breasts. Through chromosomal testing, it was determined that this young man had the sex chromosomes XXY. Identify the syndrome with which this young man was MOST likely diagnosed. A. Turner syndrome B. Klinefelter syndrome C. Cri du Chat syndrome D. Down syndrome
During the observation of a baby the diagnosis of Down's syndrome was made. What is the main cause of this pathology? Select one: a. Trisomy on the 13-th chromosome. b. Trisomy on the 21-st chromosome. c. Trisomy on X chromosome. d. Monosomy on the 1-st chromosome. O e. Undivergence of sex chromosomes.
In a karyotype of a man whose wife has had several miscarriages, it was discovered that he had onlv 45 chromosomes. However, he displayed no obvious phenotypic defects. Furthermore, one of the chromosomes of pair 15 was abnormally long. Which of the following terms best describes the condition of this man? a. monosomy b,. trisomy c. tetrasomy d. translocation carrier e. edward syndorme
We often speak of diseases such as phenylketonuria (PKU) andachondroplasia as having a genetic basis. Explain whether the followingstatements are accurate with regard to the genetic basis ofany human disease (not just PKU and achondroplasia).A. An individual must inherit two copies of a mutant allele to havedisease symptoms.B. A genetic predisposition means that an individual has inheritedone or more alleles that make it more likely that she or he willdevelop disease symptoms than other individuals in a populationwill.C. A genetic predisposition to develop a disease may be passedfrom parents to offspring.D. The genetic basis for a disease is always more important thanthe environment.
Trisomy 21, or Down syndrome, occurs when there is a normal diploid chromosomal complement but one (extra) chromosome 21. While there is reduced fertility in both sexes, females have higher fertility than males. Van Dyke et al. (1995; Down Syndrome Research and Practice 3(2):65—69) summarize data involving children born of Down syndrome individuals. Given the fact that conceptuses with 48 chromosomes (four #21 chromosomes) are not likely to survive early development, what percentage of surviving offspring would be expected to have Down syndrome if both parents have Down syndrome All the children would be expected to have Down syndrome. One-third of the surviving offspring would be expected to have Down syndrome. Two-thirds of the surviving offspring would be expected to have Down syndrome. One-half of the surviving offspring would be expected to have Down syndrome.
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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?