Genetic Pediatric · NurseQuizzes

ATI RN · Genetic Pediatric

Question 1 of 44

Which phase of the cycle is most likely to be interrupted for smaller abnormalities detection?

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ATI RN · Genetic Pediatric

Question 2 of 44

The study of chromosomes and cell division is called:

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ATI RN · Genetic Pediatric

Question 3 of 44

Each cell in an individual with Down syndrome contains chromosomes:

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ATI RN · Genetic Pediatric

Question 4 of 44

Chromosomal analysis reveals a 47,XYY karyotype. Which of the following descriptions best fits this abnormality?

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ATI RN · Genetic Pediatric

Question 5 of 44

All the following are recognized associations in infant with Down syndrome EXCEPT

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ATI RN · Genetic Pediatric

Question 6 of 44

Recombination occurs in:

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ATI RN · Genetic Pediatric

Question 7 of 44

A 1-year-old presents with a disease that is classically an autosomal recessive trait (such as cystic fibrosis). The father is tested and, with 99% confidence, he is demonstrated to be negative for the carrier state. The most likely explanation is

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ATI RN · Genetic Pediatric

Question 8 of 44

Which of the following is an example of monosomy?

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ATI RN · Genetic Pediatric

Question 9 of 44

BRCA1 and BRCA2 mutations:

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ATI RN · Genetic Pediatric

Question 10 of 44

The risk for miscarriage associated with amniocentesis is approximately

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ATI RN · Genetic Pediatric

Question 11 of 44

A gain of abnormal function rather than excessive activity in an oncogene could most probably occur through:

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ATI RN · Genetic Pediatric

Question 12 of 44

If one of the parent who carries balanced reciprocal translocation mates with a partner with normal karyotype. What is the risk of having a fetus with abnormal chromosomal complement?

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ATI RN · Genetic Pediatric

Question 13 of 44

Clinical symptoms in Marfan Syndrome (MFS) mostly involve three systems: cardiac, ophthalmologic, and skeletal. The treatment that is slowing the aortic dilatation and may prevent aortic dissection is

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ATI RN · Genetic Pediatric

Question 14 of 44

The polymerase chain reaction is best described as

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ATI RN · Genetic Pediatric

Question 15 of 44

Tetraploidy results from:

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ATI RN · Genetic Pediatric

Question 16 of 44

Mastodynia is best characterized as

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ATI RN · Genetic Pediatric

Question 17 of 44

Teratogenic agents are chemical, physical, or biologic agents that have the potential to damage embryonic tissue and result in congenital malformations. The rate of birth defects caused by teratogens is about

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ATI RN · Genetic Pediatric

Question 18 of 44

All of the following are correct except:

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ATI RN · Genetic Pediatric

Question 19 of 44

Matching: Vulvovaginitis - Associated

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ATI RN · Genetic Pediatric

Question 20 of 44

Which of the following DNA changes is pathogenic:

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ATI RN · Genetic Pediatric

Question 21 of 44

How many double stranded DNA molecules are in a somatic human cell that is in present G2 phase:

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ATI RN · Genetic Pediatric

Question 22 of 44

The MOST useful way for confirmation of genetic defect in velocardiofacial (DiGeorge) syndrome is

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ATI RN · Genetic Pediatric

Question 23 of 44

Several inherited disorders are much more common in close-knit religious communities, such as the Amish (Jews), than in the general population. This is at least partly due to the fact that:

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ATI RN · Genetic Pediatric

Question 24 of 44

A mentally retarded 15-year-old boy is found to have macroorchidism and large, prominent ears. He most likely has

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ATI RN · Genetic Pediatric

Question 25 of 44

Most human cancers are caused by:

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ATI RN · Genetic Pediatric

Question 26 of 44

A cytogenetic diagnosis of chronic myeloid leukemia is made by identification of:

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ATI RN · Genetic Pediatric

Question 27 of 44

A patient with retinoblastoma has a single tumor in one eye; the other eye is free of tumors:

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ATI RN · Genetic Pediatric

Question 28 of 44

The oncogene that causes Burkitt's lymphoma results from:

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ATI RN · Genetic Pediatric

Question 29 of 44

Possibility of combinations for diploid cell with 10 chromosomes?

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ATI RN · Genetic Pediatric

Question 30 of 44

You are asked to consult about a 2-month-old girl with hypotonia, seizures, and an elevated plasma lactate (8 mM/L, normal

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ATI RN · Genetic Pediatric

Question 31 of 44

SMOH gene located in pseudoautosomal in Y chromosome, do you expect that it will be located in 46 XX?

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ATI RN · Genetic Pediatric

Question 32 of 44

All these facts are true about human genome EXCEPT

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ATI RN · Genetic Pediatric

Question 33 of 44

A chromosomal analysis is obtained on a young woman with mild signs of Patau syndrome and reveals a 46,XX/47,XX +13 mosaic karyotype. Nondisjunction is most likely to have occurred in:

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ATI RN · Genetic Pediatric

Question 34 of 44

Which of the following is not a tumour suppressor gene?

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ATI RN · Genetic Pediatric

Question 35 of 44

The most stable chromosome of the following is:

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ATI RN · Genetic Pediatric

Question 36 of 44

Which of the following are known to cause cancer?

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ATI RN · Genetic Pediatric

Question 37 of 44

The presence of an extra digit is referred to as:

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ATI RN · Genetic Pediatric

Question 38 of 44

Which of the following trisomy karyotypes has the mildest effect on human development?

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ATI RN · Genetic Pediatric

Question 39 of 44

A European couple with diagnosis of hearing loss in father's brother in autosomal recessive variant. What is the probability to have an AFFECTED FETUS? Knowing that the carrier frequency of this variant in the European population is around 1/30.

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ATI RN · Genetic Pediatric

Question 40 of 44

Polygenic inheritance (multifactorial) disorders result from the interplay of genetic and environmental factors. All the following considered as polygenic inheritance EXCEPT

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ATI RN · Genetic Pediatric

Question 41 of 44

A 35-year-old man who works at a facility processing highly radioactive substances accidentally receives a high, whole-body dose of ionizing radiation estimated to be 1500 rads (15 gray). He dies 1 week later. At autopsy, histologic examination of the skin shows scattered, individual epidermal cells with shrunken markedly eosinophilic cytoplasm and pyknotic, fragmented nuclei. These morphologic changes most likely indicate which of the following processes?

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ATI RN · Genetic Pediatric

Question 42 of 44

Human males are much more likely to be have hemophilia (a failure of blood to clot properly) than human females. This is the case because:

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ATI RN · Genetic Pediatric

Question 43 of 44

Which of the following is not a recognized complication of cystic fibrosis?

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ATI RN · Genetic Pediatric

Question 44 of 44

Which one of the following causes a frame-shift mutation?

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