Just my Karyotype
Parents, amiright?
Testy, testy
Where the heck are we?
Condition, She Wrote
100
Which condition is associated with the following karyotype?
47, XX, +18
Edwards Syndrome
100
Which theory regarding the correlation between chromosomal abnormalities and maternal age is currently supported by evidence?
Age of oocyte is associated with increased rates of nondisjunction in older mothers
100
Which test is shown below: 
FISH
100
Describe the location of a gene based on the following notation:
18p47
Chromosome 18
Short arm (p)
Region: 4
Band: 7
100
Name one lab test that would be abnormal in an individual with Klinefelter Syndrome.
Low testosterone
200
An isochromosome of which chromosome would lead to a phenotype like Turner Syndrome?
X
200
Most cases of Trisomy X are caused by a nondisjunction event in which parent?
Mother
200
This test requires the use of colcemid to arrest cells in mitosis in metaphase.
Karyotype
200
In an acrocentric chromosome which arm (p or q) is missing or barely there?
Short arm - p
200
Which of the following would be an unexpected characteristic in an individual with 11p deletions?
A. Aniridia
B. GI abnormalities
C. CT imaging revealing a tumor on the right kidney
D. Tall stature
D. Tall stature
300
The following karyotype is associated with which condition - be specific!
45, XX, der(14;21)(q10,q10)
Familial Down Syndrome (Robertsonian translocation)
300
During which part of meiosis does nondisjunction in the mother often associate with the offspring having Down Syndrome?
Meiosis I
300
If the green = chromosome 12 and the red = chromosome 13, then what condition does this patient have? 
Trisomy 13 - Patau Syndrome
300
Which type of the following is a type of unbalanced chromosomal structural abnormality?
A. Ring chromosome
B. Monosomy
C. Robertsonian Translocation
A. Ring Chromosome
300
A 33 year old man comes into your office with his wife, seeking a fertility evaluation. The man is 6'7" and dropped out of high school due to a lack of ADHD resources in his school system. Physical exam reveals no abnormalities of the genitalia morphology. Hormone testing is also unremarkable. Genetic testing of this individual reveals an abnormal karyotype. What is the likely karyotype, based on the presentation above?
47, XYY Syndrome
400
Which condition is associated with a chromosomal long arm deletion in a region likely containing the genes, CTNND2 (delta catenin) and TERT?
Cri du Chat - 5q deletion
400
In 80% cases this 5q deletion is traced back to the father.
Cri du Chat
400
Which of the following is CGH most useful for?
A. Fertility counseling
B. Cancer treatment
C. Medication matching
D. Palliative care
B. Cancer treatment
400
Which 3 genes are found in the region 21q21-21q22.3 and are thought to potentially play an important role in characteristics associated with trisomy 21?
DYRK1A: candidate gene for intellectual disability
DSCR1: overexpressed in brains of DS fetuses - plays a role in CNS development
APP: associated with some cases of Alzheimer's
400
Of the chromosomal abnormalities, we have learned about, for which two conditions can the individual be capable of ovulation?
Down Syndrome and Trisomy X
500
A Robertsonian Translocation can occur in any of the following chromosomes EXCEPT:
A. 13
B. 15
C. 28
D. 21
C. 28
Robertsonian Translocations can only occur in acrocentric chromosomes: 13, 14, 15, 21, 22
500
People with the chromosome constitution 47, XXY are phenotypically males (Klinefelter syndrome). A normal woman whose father had hemophilia (an X-linked recessive disorder) mates with a normal man and produces an XXY son who also has hemophilia. What kind of nondisjunction can explain this result?
Maternal, Meiosis II
500
During which phase of cell division can FISH testing be used, and what is one benefit of it over Karyotyping?
Interphase, and it can detect small deletions, insertions, and rearrangements that Karyotyping cannot (better resolution).
500
A critical genetic region on chromosome 8 is directly related to First Year Medical Student Stress Syndrome (FYMSSS), located at 8q72. If you discovered a marker associated with, but not causing FYMSSS, that was located at 8q74, where in relation to the FYSSS-causing region is this marker located?
On the long arm, between the genetic marker and the end of the chromosome.
500
A 15 YO young woman comes into your office for a new patient well check. The patient's mother is concerned that the patient has not yet reached menarche and has asked for your opinion. On physical examination, you note that the patient has a systolic ejection murmur over the aorta, and bilateral prominent styloid projections. Review of medical history also reveals that the patient has been in the 22nd percentile for height throughout childhood. What chromosomal condition do you suspect this patient has?
Turner Syndrome (XO)