Common Pediatric Genetic Disorders

ATI RN · Common Pediatric Genetic Disorders

Question 1 of 42

A proto-oncogene can become an oncogene when:

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ATI RN · Common Pediatric Genetic Disorders

Question 2 of 42

The treatment of choice for labial adhesions is

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ATI RN · Common Pediatric Genetic Disorders

Question 3 of 42

Marfan syndrome is caused by mutations in the gene which encodes

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ATI RN · Common Pediatric Genetic Disorders

Question 4 of 42

Which of the following mutations is most likely to be lethal?

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ATI RN · Common Pediatric Genetic Disorders

Question 5 of 42

Of the following, the one which carries the higher rate of congenital heart disease is

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ATI RN · Common Pediatric Genetic Disorders

Question 6 of 42

Which of the following fetal tissues are used for studying the fetal chromosomes?

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ATI RN · Common Pediatric Genetic Disorders

Question 7 of 42

If a fragment of a chromosome breaks off and then reattaches to the original chromosome but in the reverse direction, the resulting chromosomal abnormality is called:

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ATI RN · Common Pediatric Genetic Disorders

Question 8 of 42

Which of the following results in net gain genetic material?

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ATI RN · Common Pediatric Genetic Disorders

Question 9 of 42

Which of the following karyotypes is diagnostic of Down syndrome?

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ATI RN · Common Pediatric Genetic Disorders

Question 10 of 42

Complete mole results from:

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ATI RN · Common Pediatric Genetic Disorders

Question 11 of 42

The genetic disease cystic fibrosis is caused by a defective allele that:

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ATI RN · Common Pediatric Genetic Disorders

Question 12 of 42

Which statement is true?

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ATI RN · Common Pediatric Genetic Disorders

Question 13 of 42

5-month-old girl has bilateral retinoblastoma. Neither parent has a history of having had retinoblastoma. Chromosomal analysis of the patient's stimulated peripheral blood lymphocytes is done; the photograph is of a representative karyotype. Which of the following critical events has most likely resulted from an aberration involving chromosome 13?

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ATI RN · Common Pediatric Genetic Disorders

Question 14 of 42

Leber's hereditary optic atrophy is caused by a mutation in:

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ATI RN · Common Pediatric Genetic Disorders

Question 15 of 42

What is the karyotype shown in the figure?

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ATI RN · Common Pediatric Genetic Disorders

Question 16 of 42

Which of the following is an X-linked dominant inheritant disease?

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ATI RN · Common Pediatric Genetic Disorders

Question 17 of 42

The childhood kidney cancer Wilms' tumor is caused by:

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ATI RN · Common Pediatric Genetic Disorders

Question 18 of 42

Nondisjunction in meiosis I happens between and in meiosis II it happens between

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ATI RN · Common Pediatric Genetic Disorders

Question 19 of 42

The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?

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ATI RN · Common Pediatric Genetic Disorders

Question 20 of 42

Large triplet repeat expansions can be detected by:

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ATI RN · Common Pediatric Genetic Disorders

Question 21 of 42

If an embryo with 46 chromosomes develops from an egg that lost its nucleus, it will most probably become:

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ATI RN · Common Pediatric Genetic Disorders

Question 22 of 42

The karyotype where euchromatic regions stain more darkly and the light regions are heretochromatin is:

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ATI RN · Common Pediatric Genetic Disorders

Question 23 of 42

If a GAMETE chromosomes are 16, what is the number of chromatids before anaphase 1?

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ATI RN · Common Pediatric Genetic Disorders

Question 24 of 42

A 10-month-old baby with achondroplasia; developing recurrent apneas. Of the following, the MOST likely cause is

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ATI RN · Common Pediatric Genetic Disorders

Question 25 of 42

The most common lethal genetic disease in the United States is:

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ATI RN · Common Pediatric Genetic Disorders

Question 26 of 42

Which of the following has rDNA?

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ATI RN · Common Pediatric Genetic Disorders

Question 27 of 42

Matching: Vulvovaginitis - Umbilicated

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ATI RN · Common Pediatric Genetic Disorders

Question 28 of 42

A 15-day-old baby with Down syndrome, during routine blood testing found to have high leukocyte count (34,000), the baby otherwise is asymptomatic. Of the following, the MOST appropriate advice /action is

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ATI RN · Common Pediatric Genetic Disorders

Question 29 of 42

The characteristic indicated by the blackened figures is probably:

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ATI RN · Common Pediatric Genetic Disorders

Question 30 of 42

A child with cleft palate, a heart defect, and extra fifth fingers is found to have 46 chromosomes with extra material on one homologue of the chromosome 5 pair. This chromosomal abnormality is best described by which of the following terms?

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ATI RN · Common Pediatric Genetic Disorders

Question 31 of 42

cells are commonly used today in research laboratories. They are from a cervical cancer patient who died in 1951:

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ATI RN · Common Pediatric Genetic Disorders

Question 32 of 42

The percentage of DNA sequence variation between humans is the lowest in:

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ATI RN · Common Pediatric Genetic Disorders

Question 33 of 42

Disorders caused by expansion of trinucleotide repeats include all the following EXCEPT

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ATI RN · Common Pediatric Genetic Disorders

Question 34 of 42

Homeobox gene mutations have been associated with all of the following EXCEPT

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ATI RN · Common Pediatric Genetic Disorders

Question 35 of 42

Individual A is affected with hearing loss (HL) and his ethnic background is African. Individual E is also affected with HL and his ethnic background is European:

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ATI RN · Common Pediatric Genetic Disorders

Question 36 of 42

Consanguinity shows a strong association with which pattern of inheritance?

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ATI RN · Common Pediatric Genetic Disorders

Question 37 of 42

What is the possibility for a couple to have a child with Edwards syndrome if the fathers' homologous chromosomes 18 fail to disjoin during meiosis I?

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ATI RN · Common Pediatric Genetic Disorders

Question 38 of 42

The most important reason to carefully screen for Y chromosome material in patients with Turner syndrome is to

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ATI RN · Common Pediatric Genetic Disorders

Question 39 of 42

In a patient with nonhereditary caner. The driver mutations:

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ATI RN · Common Pediatric Genetic Disorders

Question 40 of 42

Dysgerminomas of the ovaries are usually associated with

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ATI RN · Common Pediatric Genetic Disorders

Question 41 of 42

Chronic myeloid leukemia is caused by?

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ATI RN · Common Pediatric Genetic Disorders

Question 42 of 42

Consanguinity may increase the chance that a child will be born with a rare autosomal recessive (AR) condition. The risk of first cousins producing a child with an AR disorder is

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