46 XX male syndrome is a rare condition, described by De la Chapelle et al. in 1964 where the individual has phenotypically male characteristics. It occurs in one out of every 20,000-25,000 newborn males. This condition could be related to:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 2 of 44
Matching: Vulvovaginitis - Nits on hair shaft
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 3 of 44
A unaffected couple who are first cousins request counseling regarding their risk of having a child with alpha-1-antitrypsin deficiency, a rare autosomal recessive trait. Their parents are unaffected. Their shared grandfather is affected with the disorder and their shared grandmother is heterozygous. What is the risk to their child of being HOMOZYGOUS FOR A VARIANT FOR THE CONDITION? (disregard the population carrier frequency)
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 4 of 44
Suppose there's an X-linked recessive disease, if the mother has the disease, while the father doesn't, what's the chance that they'll have an affected female?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 5 of 44
A mutation leading to:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 6 of 44
Possible causes of vaginal bleeding in a prepubertal female include all of the following EXCEPT
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 7 of 44
A full-term female newborn is examined shortly after birth. She appears to be small for gestational age, and she has excess skin on the nape of the neck and lymphedema of the hands and feet. Chromosomal analysis shows some cells with a normal 46,XY karyotype and some cells with a 45,X karyotype. Which of the following mechanisms best explains this cytogenetic abnormality?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 8 of 44
The most common aneuploidy that infants can survive with is (most compatible with life)?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 9 of 44
The most commonly used stain for metaphase chromosomes is?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 10 of 44
Growth of new blood vessels in and around tumors is called:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 11 of 44
Hypomelanosis of Ito is characterized by all of the following EXCEPT
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 12 of 44
A de novo variant occurs due to an error in:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 13 of 44
The normal human chromosome diploid number is:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 14 of 44
What are the genotypes of the parents?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 15 of 44
Fragile X syndrome (FRAX) is the most common cause of inherited intellectual disability. The individual who manifest the disease may have the number of trinucleotide repeat of CGG in the region Xq 27 of
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 16 of 44
A 2-year-old girl with history of delayed speech, lonely play, and special hand movement (hand washing posture), the parents are healthy relative couple. The genetic cause of this disorder is MOST likely due to
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 17 of 44
Which one of the following karyotypes is most likely to be found in normal human ovarian progenitor cell?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 18 of 44
Formation of a retinoblastoma eye tumor requires:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 19 of 44
Which of the following deletion of the p arm causes abnormality?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 20 of 44
If both parents are affected with the same autosomal recessive disorder then the probability that each of their children will be affected equals
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 21 of 44
Of the following, the study that is MOST useful in diagnosis of an aneuploidy is
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 22 of 44
Normal phenotypically will be:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 23 of 44
Which of the following is a feature of X-linked dominant inheritance?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 24 of 44
Huntington's disease is an example of a genetic disorder caused by:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 25 of 44
Cancer causing agents are called:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 26 of 44
Maternal exposure to DES places the female offspring at increased risk for
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 27 of 44
Neurofibromatosis Type 1 regarded as one of the most common AD disorders but many affected individuals have features so mild that they are never diagnosed. Of the following, the MOST likely cause of such phenomena is
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 28 of 44
Which of the following is not a chromosome instability syndrome?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 29 of 44
FISH in genetic testing is best described as
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 30 of 44
Pair homologous chromosomes in metaphase I, how many double strand DNA in it?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 31 of 44
Cancer cells are considered to be:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 32 of 44
A young parents with Down syndrome baby with Robertsonian translocation. Both did a chromosomal karyotype study. Of the following the MOST likely result is
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 33 of 44
All the following are characteristic features of Williams syndrome EXCEPT
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 34 of 44
Partial mole results from:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 35 of 44
The most common cause of trisomy 21:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 36 of 44
is a type of cancer-causing gene that promotes cancer by activating cell division at an inappropriate time or place:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 37 of 44
In the following partial sequence of mRNA, a mutation of the template DNA results in a change in codon 91 to UAA. What type of mutation is it? | 88 | 89 | 90 | 91 | 92 | 93 | 94 | GUC | GAC | CAG | UAG | GGC | UAA | CCG |
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 38 of 44
The most common cystic fibrosis mutation consists of:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 39 of 44
Which of the following are thought to lower the risk of developing cancer?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 40 of 44
Why are individuals with an extra chromosome 21, which causes Down syndrome, more numerous than individuals with an extra chromosome 3 or chromosome 16?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 41 of 44
A 10-year-old boy is referred to the physician because of learning problems and a lack of motivation in school. His family history is unremarkable. Physical examination is normal except for single palmar creases of the hands and curved fifth fingers (clinodactyly). The physician decides to order a karyotype. Which of the following indications for obtaining a karyotype would best explain the physician's decision in this case?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 42 of 44
Which of the following is not needed for DNA replication?
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 43 of 44
Which of the following fetal tissues are used for studying the fetal chromosomes:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
ATI RN · Genetic Disorders in Pediatrics
Question 44 of 44
Most cancers cases occur due to:
Select an option. Use Strike to cross one out.
Rationale
Did you know the question?
End of free preview
You have finished the first five questions. Sign in to continue this set and save your progress.
