Cystic fibrosis is the most common autosomal recessive disorder in caucasian children with an occurrence of 1 in 2000 in Caucasian populations and about 1/22 carriers in Caucasian populations. Assuming that these data are applicable to a Norwegian community in U.S.A comprising of 16000 people, the percentage of all the CF genes hidden carriers and in patients in this community are respectively:
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ATI RN · Pediatric Genetics
Question 2 of 44
A variant that results in genetic mosaicism is:
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ATI RN · Pediatric Genetics
Question 3 of 44
Patients with Turner syndrome should undergo careful analysis of their chromosomes for Y chromosome material because they may
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ATI RN · Pediatric Genetics
Question 4 of 44
A patient with Klinefelter syndrome can be seen as:
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ATI RN · Pediatric Genetics
Question 5 of 44
No fetus at all:
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ATI RN · Pediatric Genetics
Question 6 of 44
Chromosome analysis should be ordered for children with
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ATI RN · Pediatric Genetics
Question 7 of 44
Premarital screening for variable genetic disorders is mainly depending on ethnic group from which the couple is originated. People whose ancestors originated in the Mediterranean basin may be screened for
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ATI RN · Pediatric Genetics
Question 8 of 44
John and Jesica are planning a family, but since each has a brother who has sickle cell anemia, they are concerned that their children may develop sickle-cell disease. Neither John, Jane nor their respective parents have the disease. They consult a genetic counselor who tells them:
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Question 9 of 44
Which of the following is not a familial cancer syndrome?
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ATI RN · Pediatric Genetics
Question 10 of 44
The proportion of genes shared by first cousins is on average
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ATI RN · Pediatric Genetics
Question 11 of 44
Male to male transmission is a key feature of which pattern of inheritance?
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Question 12 of 44
Autosomes:
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Question 13 of 44
In an experiment gene X was over expressed in neoplastic cell. Consequently, it acquired malignant traits. Gene X is most likely:
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Question 14 of 44
With a germ-line mutation:
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Question 15 of 44
Law of segregation related to and law of independent assortment related to
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Question 16 of 44
Genetic diseases caused by change or (mutation) in DNA sequence. The frame shift mutation refers to
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ATI RN · Pediatric Genetics
Question 17 of 44
A 7-year-old female complains of a brown-green discharge on her underwear. She has no fever or labial tenderness and denies sexual contact. Her mother states that for the past 4 months her daughter has been taking ballet classes and frequently sleeps in her leotards. The most likely diagnosis is
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Question 18 of 44
In a Robertsonian translocation fusion occurs at the:
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Question 19 of 44
A linkage map:
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Question 20 of 44
The nomenclature c.2312_2314delinGCGTGGACAAC G denotes:
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Question 21 of 44
Disorders involving unusual numbers of sex chromosomes show that maleness is caused by the:
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Question 22 of 44
Which type of study would compare the incidence of colon cancer among Japanese and Americans of Japanese descent?
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Question 23 of 44
The practical way to visualize a karyotype of a suspected very large chromosomal deletion, is to:
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ATI RN · Pediatric Genetics
Question 24 of 44
A fullterm baby with multiple congenital anomalies, his blood film reported nuclear projections in neutrophils. Of the following the MOST likely diagnosis is
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ATI RN · Pediatric Genetics
Question 25 of 44
The number of human chromosomes by the end of anaphase of meiosis II is:
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ATI RN · Pediatric Genetics
Question 26 of 44
Which of the following karyotypes is an example of aneuploidy?
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Question 27 of 44
46 XX male, the defect is related to:
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ATI RN · Pediatric Genetics
Question 28 of 44
A baby born with pulmonary hypoplasia secondary to oligohydramnios caused by renal agenesis would be classified as having:
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Question 29 of 44
The main treatment for PKU includes:
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Question 30 of 44
Prader-Willi syndrome may occur from a uniparental maternal disomy of chromosome 15. There is no parental chromosome 15. The expressed phenotype is an example of
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ATI RN · Pediatric Genetics
Question 31 of 44
The figure depicts two possible graphs of an assumed population genetic diversity. In comparison to each other:
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ATI RN · Pediatric Genetics
Question 32 of 44
A young lady had aborted recently, part of consoling, you told her that there is possibility of chromosomal anomalies in an aborted fetus, that is actually true and it is equal to be about
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Question 33 of 44
The chromatin in interphase and in M phase
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Question 34 of 44
A pedigree chart shows:
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Question 35 of 44
The location of alpha satellite:
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Question 36 of 44
Which of the following statements is NOT associated with multifactorial disease inheritance?
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Question 37 of 44
Which of the following findings on prenatal ultrasound examination would not raise suspicion of a chromosome abnormality?
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Question 38 of 44
Cancer cells:
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Question 39 of 44
A couple are both tested, the father is affected with cystic fibrosis and the mother is a carrier of cystic fibrosis gene. What is the chance that they will have a HOMOZYGOUS NORMAL MALE?
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ATI RN · Pediatric Genetics
Question 40 of 44
An affected mother with hypertrophic pyloric stenosis (HPS), became pregnant. She came to you to explain the possibility of future affection of her kids. Of the following, the MOST likely true explanation is
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ATI RN · Pediatric Genetics
Question 41 of 44
A 16-year-old non-sexually active female has had increasingly severe headaches and a breast discharge for 3 months. Physical examination reveals bitemporal hemianopsia. An important laboratory study in evaluating this patient is a serum level of
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Question 42 of 44
Trinucleotide repeats are implicated in the etiology of all of the following EXCEPT
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Question 43 of 44
The Philadelphia translocation involves:
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Question 44 of 44
A child person with clinical features that include: cardiovascular, brain with neurological, renal, gastrointestinal, respiratory, and skeletal malformations, craniofacial abnormalities such as prominent occiput, hand and feet anomalies including clenched hand. This patient is most probably affected with:
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