Pediatric Genetic Disorders

ATI RN · Pediatric Genetic Disorders

Question 1 of 44

Cancer cells are not:

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ATI RN · Pediatric Genetic Disorders

Question 2 of 44

A healthy mother is married to a man who has a roberstonian 14,21 balance. What is the possibility to have a baby with down syndrome?

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ATI RN · Pediatric Genetic Disorders

Question 3 of 44

Chromosome 22 is:

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ATI RN · Pediatric Genetic Disorders

Question 4 of 44

Which banding technique stains heterochromatin (dark) and euchromatin (light)?

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ATI RN · Pediatric Genetic Disorders

Question 5 of 44

Vulvovaginitis in prepubertal girls is characterized by all of the following EXCEPT

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ATI RN · Pediatric Genetic Disorders

Question 6 of 44

Tay-Sachs disease is best described by

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ATI RN · Pediatric Genetic Disorders

Question 7 of 44

A 17-year-old Tanner stage 2 female presents with a history of bilateral spontaneous milky discharge from her breasts for 2 months. Menarche was at age 12 years, and her periods had been regular until 4 months before this visit to your office. In addition, she complains of headache on awakening for the past 2 weeks. The most useful screening test is

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ATI RN · Pediatric Genetic Disorders

Question 8 of 44

The most common occurring mutations in humans are:

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ATI RN · Pediatric Genetic Disorders

Question 9 of 44

Trisomy 47,XYY is a syndrome with signs and symptoms that range from being barely noticeable to learning disabilities, speech delay, low muscle tone. How would you expect this syndrome to have occurred?

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ATI RN · Pediatric Genetic Disorders

Question 10 of 44

Autozygosity mapping is used to map disorders that show which pattern of inheritance?

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ATI RN · Pediatric Genetic Disorders

Question 11 of 44

Next Generation Sequencing (NGS) can perform Whole Exome Sequencing (WES) for the entire coding regions in one reaction. WES will be more successful in detecting a candidate disease-causing change in:

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ATI RN · Pediatric Genetic Disorders

Question 12 of 44

Multifactorial inheritance is characterized by all of the following EXCEPT

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ATI RN · Pediatric Genetic Disorders

Question 13 of 44

Baby with large placenta, with or without microcephaly:

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ATI RN · Pediatric Genetic Disorders

Question 14 of 44

Complete the following sentence. The Philadelphia chromosome (associated with chronic myelogenous leukemia):

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ATI RN · Pediatric Genetic Disorders

Question 15 of 44

Phenotypic features:

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ATI RN · Pediatric Genetic Disorders

Question 16 of 44

A person whose karyotype is 45, XX, t(15q;21q). If she mates with a 46, XY normal individual. What is the possibility that they will have a zygote which will develop into Down syndrome? ('t' is translocation):

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ATI RN · Pediatric Genetic Disorders

Question 17 of 44

The BRAC1 gene is involved in regulating:

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ATI RN · Pediatric Genetic Disorders

Question 18 of 44

Children with Down syndrome are most likely diagnosed clinically in the neonatal period. All the following are characteristic facial features EXCEPT

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ATI RN · Pediatric Genetic Disorders

Question 19 of 44

To evaluate abdominal distention, a KUB reveals a 'double bubble' sign. The best explanation for the neonate's abdominal distention is

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ATI RN · Pediatric Genetic Disorders

Question 20 of 44

In people with sickle cell disease the red blood cells breakdown, clump, and clog the blood vessels. The broken cells accumulate in the spleen. Among other things, this leads to physical weakness, heart failure, pain, brain damage and spleen damage. Affected individuals become paralyzed and can develop rheumatism, pneumonia and other diseases and kidney failure. This is an example of:

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ATI RN · Pediatric Genetic Disorders

Question 21 of 44

The clinical features of patients with Marfan syndrome are caused by unusually stretchable connective tissue. The most observed features in Marfan syndrome affect the eye, the skeleton, and the cardiovascular system. This is an example of:

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ATI RN · Pediatric Genetic Disorders

Question 22 of 44

Which statement concerning a pair of alleles for a gene controlling a single characteristic in humans is true?

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ATI RN · Pediatric Genetic Disorders

Question 23 of 44

Of the following, the MOST common type of X-linked inheritance is

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ATI RN · Pediatric Genetic Disorders

Question 24 of 44

Which of the following is NOT a familial cancer syndrome:

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ATI RN · Pediatric Genetic Disorders

Question 25 of 44

A female with a flattened face, small head, short neck, protruding tongue, small ears, and a poor muscle tone (hypotonia). She probably has a genetic disorder that's caused by?

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ATI RN · Pediatric Genetic Disorders

Question 26 of 44

Human mitochondria:

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ATI RN · Pediatric Genetic Disorders

Question 27 of 44

Marked microsatellite instability is a feature of:

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ATI RN · Pediatric Genetic Disorders

Question 28 of 44

The figure below represents the pedigree of a family with neurofibromatosis type 1 with the arrow indicating the proband. This pedigree shows a:

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ATI RN · Pediatric Genetic Disorders

Question 29 of 44

Sporadic cancers result from:

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ATI RN · Pediatric Genetic Disorders

Question 30 of 44

You are evaluating a neonate with multiple dysmorphic features, you find him small for gestational age, microcephalic, single nostril, postaxial polydactyly and rocker-bottom feet. Of the following the MOST likely diagnosis is

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ATI RN · Pediatric Genetic Disorders

Question 31 of 44

This is an electrophoresis (southern blots) for an individual with hereditary retinoblastoma; both normal and tumor cells were genotyped for three polymorphic markers flanking the RBI locus on chromosome 13 for this patient (N=normal cells, T=tumor cells). Based on the figure, which of the following is the most likely to explain the genetic mutation in this patient's cancer?

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ATI RN · Pediatric Genetic Disorders

Question 32 of 44

A 24-year-old pregnant lady in 2nd trimester comes to your clinic worried about her exposure to CXR done for suspicion of pneumonia last week; she is highly concerned about possibility of congenital anomalies. Of the following, the BEST advice to her is that

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ATI RN · Pediatric Genetic Disorders

Question 33 of 44

The following are examples of autosomal dominant disorders EXCEPT

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ATI RN · Pediatric Genetic Disorders

Question 34 of 44

The treatment of choice for the patient in Questions 11 and 12 is

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ATI RN · Pediatric Genetic Disorders

Question 35 of 44

This chromosome is:

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ATI RN · Pediatric Genetic Disorders

Question 36 of 44

One of the following is true about telomerase:

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ATI RN · Pediatric Genetic Disorders

Question 37 of 44

Genes that normally prevent cell division are:

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ATI RN · Pediatric Genetic Disorders

Question 38 of 44

The most common chromosome abnormality in first trimester spontaneous miscarriages is:

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ATI RN · Pediatric Genetic Disorders

Question 39 of 44

The first step in FAP colon cancer usually involves mutation of the gene:

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ATI RN · Pediatric Genetic Disorders

Question 40 of 44

In which phase of gametogenesis nondisjunction will produce all the cells aneuploidy?

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ATI RN · Pediatric Genetic Disorders

Question 41 of 44

The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which situation?

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ATI RN · Pediatric Genetic Disorders

Question 42 of 44

Mutations that cause achondroplasia exert an effect, which can be classified as:

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ATI RN · Pediatric Genetic Disorders

Question 43 of 44

which of the following human genetic disorders is sex linked?

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ATI RN · Pediatric Genetic Disorders

Question 44 of 44

The MOST common genetic defect of Prader-Willi syndrome (PWS) is

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