Which P arm of the following chromosomes carries rDNA genes?
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ATI RN · Pediatrics Genetics
Question 2 of 44
Which of the following conditions shows anticipation in paternal transmission?
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ATI RN · Pediatrics Genetics
Question 3 of 44
Normal pregnancy results from:
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ATI RN · Pediatrics Genetics
Question 4 of 44
The growing promising technique that is still in the research stage and being piloted in high-risk pregnancies for prenatal diagnosis is
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ATI RN · Pediatrics Genetics
Question 5 of 44
An extra finger in humans is rare but is due to a dominant gene. When one parent is normal and the other parent has an extra finger but is heterozygous for the trait, what is the probability that the first child will be normal?
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ATI RN · Pediatrics Genetics
Question 6 of 44
Heart disease, diabetes, cancer, alcoholism and many mental illnesses can best be described as:
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ATI RN · Pediatrics Genetics
Question 7 of 44
The location of beta satellite:
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ATI RN · Pediatrics Genetics
Question 8 of 44
47 XYY occurs due to:
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ATI RN · Pediatrics Genetics
Question 9 of 44
Which of the following is a tumor suppressor gene instead of an oncogene?
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ATI RN · Pediatrics Genetics
Question 10 of 44
Which of the following chromosomal alterations would you expect to have the most drastic consequences?
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ATI RN · Pediatrics Genetics
Question 11 of 44
A cell is in GO phase. How many chromosomes does it have?
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ATI RN · Pediatrics Genetics
Question 12 of 44
All the following are the rules of X-Linked recessive Inheritance EXCEPT
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ATI RN · Pediatrics Genetics
Question 13 of 44
A genetic defect in humans results in the absence of sweat glands in the skin. Some men have this defect all over their bodies, but in women, it is usually expressed in a peculiar way. A woman with this defect typically has small patches of skin with sweat glands and other patches where sweat glands are lacking. This pattern suggests the phenotypic effect of:
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ATI RN · Pediatrics Genetics
Question 14 of 44
A 31-year-old man has a unilateral breast lump. A biopsy is performed, and the pathology report, surprisingly, shows an early-stage carcinoma. The man's family history reveals no history of breast cancer. What would the physician be most likely to advise?
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ATI RN · Pediatrics Genetics
Question 15 of 44
Which of the following karyotypes is not compatible with survival to birth?
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ATI RN · Pediatrics Genetics
Question 16 of 44
Of the following, the test /study that is required to be done periodically in persons with Down syndrome (DS) is
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ATI RN · Pediatrics Genetics
Question 17 of 44
Wilms' tumor (nephroblastoma), an embryonal malignancy of the kidney, is the most common renal tumor of childhood. The tumor suppressor WTI is associated with familial Wilms Tumor and its locus is IlpDNA was extracted from the normal tissue and tumor of a patient with Wilms' tumor, and from the blood of the patient's father and mother. Electrophoresis (southern blot) was performed for a polymorphic marker (A) which is close to WTI. Based on the figure, which of the following is the most likely to explain the mutation in this patient's cancer?
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ATI RN · Pediatrics Genetics
Question 18 of 44
Tetraploidy:
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Question 19 of 44
Which of the following genetic changes is associated with a female whose karyotype is 46, XY?
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ATI RN · Pediatrics Genetics
Question 20 of 44
Parents to a 2-year-old boy with achondroplasia, father is 45 years and mother is 35 years old and no one of them manifest the disease. Of the following, the MOST likely explanation is
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ATI RN · Pediatrics Genetics
Question 21 of 44
All are true about homeobox genes EXCEPT
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ATI RN · Pediatrics Genetics
Question 22 of 44
Karyotyping is not used in:
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ATI RN · Pediatrics Genetics
Question 23 of 44
Which of the following is correct with regard to aneuploidy?
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ATI RN · Pediatrics Genetics
Question 24 of 44
Which of the following cannot be seen in triploidy?
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ATI RN · Pediatrics Genetics
Question 25 of 44
Although BRAC2 was initially found associated with breast cancer, it also increases the risk for cancers in the
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ATI RN · Pediatrics Genetics
Question 26 of 44
Loss of tumor suppression in a cell usually results from:
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ATI RN · Pediatrics Genetics
Question 27 of 44
You observed a patient with a genetic disorder for which there is no previous family history of his disease. which of the following scenarios could explain this situation:
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ATI RN · Pediatrics Genetics
Question 28 of 44
The prolactin level of the young woman described in Question 1 is 1000 times higher than normal. The next test in her evaluation should be
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ATI RN · Pediatrics Genetics
Question 29 of 44
Which of the following would result in Angelman syndrome?
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ATI RN · Pediatrics Genetics
Question 30 of 44
Cells of the eye lens are:
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ATI RN · Pediatrics Genetics
Question 31 of 44
A chromosomal abnormality that involves 30 megabase region. The most likely abnormality to cause the worse disease is:
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ATI RN · Pediatrics Genetics
Question 32 of 44
A cancer that spreads is termed:
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ATI RN · Pediatrics Genetics
Question 33 of 44
RET gene:
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Question 34 of 44
Down syndrome due to translocation of a third chromosome 21 is best described by all of the following EXCEPT
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ATI RN · Pediatrics Genetics
Question 35 of 44
Which of the following causes female pseudohermaphroditism?
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ATI RN · Pediatrics Genetics
Question 36 of 44
The figure below is the pedigree demonstrating the recurrence of Osteogenesis imperfecta in children with their father unaffected (arrow)
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ATI RN · Pediatrics Genetics
Question 37 of 44
Expressivity can be described as:
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Question 38 of 44
Which of the following conditions is caused by a trinucleotide (triplet) repeat expansion?
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ATI RN · Pediatrics Genetics
Question 39 of 44
All the following are features of Prader-Willi syndrome EXCEPT
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Question 40 of 44
Successful treatment of nonspecific vulvovaginitis includes all of the following EXCEPT
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ATI RN · Pediatrics Genetics
Question 41 of 44
69 XYY occurs due to:
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ATI RN · Pediatrics Genetics
Question 42 of 44
You are evaluating a small for gestational age neonate; you find the following features: hypertonia, prominent occiput, short sternum, and clenching of fists.
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ATI RN · Pediatrics Genetics
Question 43 of 44
Which of the following karyotype is expected to be associated with abnormal phenotype [Note: 't' is translocation, and 'del' is deletion]:
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ATI RN · Pediatrics Genetics
Question 44 of 44
The most common ovarian neoplasm in adolescents is
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