The following diseases constitute the Chromosome Instability Syndromes - Ataxia telangiectasia - Fanconi anemia - Bloom syndrome - Xeroderma Pigmentosum: The following statements on the syndromes are correct EXCEPT:
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ATI RN · Pediatric Genetic
Question 2 of 43
Which of the following is the proper cytogenetic notation for a female with Down syndrome mosaicism?
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ATI RN · Pediatric Genetic
Question 3 of 43
Which of the following human triploid is possible to be found in adults:
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ATI RN · Pediatric Genetic
Question 4 of 43
The proportion of babies that have an abnormality identifiable at birth is:
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ATI RN · Pediatric Genetic
Question 5 of 43
Which of these are thought to have anti-cancer benefits?
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ATI RN · Pediatric Genetic
Question 6 of 43
A family consulted you; they have a long history of illnesses in their progeny and ancestors, they have 3 kids; 2 boys and one girl, the latter is complaining from episodic vomiting, seizures, and recurrent attacks of limb weaknesses. The older adolescent boy is wheel chaired due to severe stroke and the young boy is doing well. The maternal grandmother has diabetes and she is visiting the ophthalmologist for treatment of squint; the mother is on treatment for heart failure and having some hearing problem. Of the following, the MOST helpful study to confirm diagnosis is
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ATI RN · Pediatric Genetic
Question 7 of 43
Why is sickle cell disease so called?
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ATI RN · Pediatric Genetic
Question 8 of 43
Which of the following disorders does not show X-linked inheritance?
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ATI RN · Pediatric Genetic
Question 9 of 43
Which of the following cannot used in karyotype?
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ATI RN · Pediatric Genetic
Question 10 of 43
In the routinely performed karyotype (G-banding). Which of the following would you expect to have more clinical impact and lead to a disease?
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ATI RN · Pediatric Genetic
Question 11 of 43
Male breast cancer is associated with mutations in:
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ATI RN · Pediatric Genetic
Question 12 of 43
Genetic anticipation is best described as
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ATI RN · Pediatric Genetic
Question 13 of 43
One of the following is an example of an x-linked recessive disorder
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ATI RN · Pediatric Genetic
Question 14 of 43
Which of the following diagnostic techniques is of no value for the diagnosis of neural tube defects?
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ATI RN · Pediatric Genetic
Question 15 of 43
Which one of the following pairs is mismatched?
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ATI RN · Pediatric Genetic
Question 16 of 43
Chronic myeloid leukemia is caused by a translocation that creates:
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ATI RN · Pediatric Genetic
Question 17 of 43
A newborn infant is noted to have dysmorphic features. The pregnancy was complicated by breech presentation, decreased fetal movements, and polyhydramnios. The child demonstrates hypotonia, a flat face, flattened occiput, epicanthal folds, and abdominal distention. The most likely cause of this child's dysmorphology is
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ATI RN · Pediatric Genetic
Question 18 of 43
A particular allele can have different effects if it was inherited from a male rather than a female. This phenomenon is known as:
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ATI RN · Pediatric Genetic
Question 19 of 43
Variants in tumor suppressors on the genetic level are----and on the phenotypic level are:---
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ATI RN · Pediatric Genetic
Question 20 of 43
Allele:
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ATI RN · Pediatric Genetic
Question 21 of 43
Pathogenic mutations in TBX5 cause Holt-Oram syndrome which includes cardiovascular (atrial septal defect, hypoplastic left heart syndrome), chest (Absent pectoralis major muscle) and skeletal anomalies (vertebral anomalies, triphalangeal thumb and carpal bone anomalies). The TBX5 phenotypic effect is related to which concept:
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ATI RN · Pediatric Genetic
Question 22 of 43
In normal differentiated somatic cells, telomerase:
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ATI RN · Pediatric Genetic
Question 23 of 43
Protects the DNA and prevents end-to-end fusion:
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ATI RN · Pediatric Genetic
Question 24 of 43
The presence of two or more cell lines from different zygotes in a single individual is known as:
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ATI RN · Pediatric Genetic
Question 25 of 43
Repeat core sequences consisting of 2,3, or 4 base pairs are known as what?
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ATI RN · Pediatric Genetic
Question 26 of 43
The shortest stage in cell cycle:
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ATI RN · Pediatric Genetic
Question 27 of 43
A medical student is asking about the meaning of balanced translocation in parents who have baby with Down syndrome. Of the following, the TRUE statement is
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ATI RN · Pediatric Genetic
Question 28 of 43
A couple approached you because of a current pregnancy and a family history with phenylketonuria (PKU). The mother told you that her sister is affected with PKU and the father told you that his uncle is affected with PKU. You performed an ultrasound and the fetus turned out to be a female. What is the risk for the couple to have UNAFFECTED FEMALE with PKU? Assume a population frequency of 1/100? Note: PKU is an autosomal recessive disease.
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ATI RN · Pediatric Genetic
Question 29 of 43
Duchenne muscular dystrophy is caused by a sex-linked recessive allele. Its victims are almost invariably boys, who usually die before the age of 20. Why is this disorder almost never seen in girls?
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ATI RN · Pediatric Genetic
Question 30 of 43
All of the following regarding telomeres is true EXCEPT:
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ATI RN · Pediatric Genetic
Question 31 of 43
Baby with macrocephaly and severe intrauterine growth retardation:
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ATI RN · Pediatric Genetic
Question 32 of 43
Which of the following variants would you expect could to be most common:
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ATI RN · Pediatric Genetic
Question 33 of 43
Normal human eggs have:
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ATI RN · Pediatric Genetic
Question 34 of 43
You are asked to consult about a 2-month-old girl with hypotonia, seizures, and an elevated plasma lactate (8 mM/L, normal deficiency. Which of the following is the most likely mode of inheritance in this infant?
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ATI RN · Pediatric Genetic
Question 35 of 43
Of the following, the first trimester non-invasive screening test with good detection rate for aneuploidy is
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ATI RN · Pediatric Genetic
Question 36 of 43
All the following are true in autosomal dominant disorder EXCEPT
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ATI RN · Pediatric Genetic
Question 37 of 43
The next diagnostic test for the patient in Question 11 is
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ATI RN · Pediatric Genetic
Question 38 of 43
Imagine if the humans' diploid chromosomal complement is 10 instead of 46. What would the number of possible combinations of meiosis be:
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ATI RN · Pediatric Genetic
Question 39 of 43
CML is caused by:
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ATI RN · Pediatric Genetic
Question 40 of 43
Strictly speaking, maternal inheritance is best defined as
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ATI RN · Pediatric Genetic
Question 41 of 43
The main gatekeeper for FAP colon cancer is most likely:
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ATI RN · Pediatric Genetic
Question 42 of 43
All the following are characteristic features of Turner syndrome EXCEPT
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ATI RN · Pediatric Genetic
Question 43 of 43
Initial therapy for the girl described in Question 4 should include all of the following EXCEPT
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