- PART 1 Questions And 100% Verified
Answers| Latest 2026/ 2027 Update|
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This syndrome is characterized by a deletion of 4p16. This syndrome is
also called the "Greek Warrior Helmet" syndrome.
a. Alagille syndrome
b. DiGeorge syndrome
c. Angelman syndrome
d. Wolf-Hirschhorn syndrome - correct answer -Wolf-Hirschhorn
syndrome
Trisomy 13, a severe disorder characterized by cleft lip palate, ocular
abnormalities, polydactyly, clenched fist, and rocker-bottom feet is also
known as:
a. Robertsonian syndrome
b. Edward syndrome
c. Patau syndrome
d. Down syndrome - correct answer -Patau syndrome
,Rearrangements of 14q11, 7p15, and 7q35 are characteristically found
in:
a. Myeloid malignances
b. Lymphoid malignances
c. T-cell malignances
d. B-cell malignances - correct answer -T-cell malignances
A diagnosis of true mosaicism can only be made when:
a. The abnormal cell lines are found in the same culture vessel
b. The same abnormal cell line is found in at least two independent
culture vessels
c. Two or more abnormal cell lines are found the same in situ culture
d. When 46,XX and 46,XY cell lines are found in the same culture vessel
- correct answer -The same abnormal cell line is found in at least two
independent culture vessels
Which of the following is the chromosome abnormality most often
observed in ANLL.
,a. t(8;21)
b. t(9;22)
c. +12
d. t(8;14) - correct answer -t(8;21)
The karyotype of a CVS culture is determined to be mosaic for trisomy
21. Many cases of this type are considered to be caused by CPM
(Confined Placental Mosaicism). What information should be given to
the parents of this fetus in case CPM is the cause for mosaicism?
a. It is possible that the fetus is normal and only the placenta is mosaic
for trisomy 21
b. It is possible that the fetus is mosaic for trisomy 21 and the placenta
is normal giving this fetus a worse chance for survival
c. It is possible that the fetus has constitutional trisomy 21 and the
placenta is normal giving this fetus a better chance for survival
d. All of the above - correct answer -It is possible that the fetus is
normal and only the placenta is mosaic for trisomy 21
A male requests a chromosome karyotype to be made on his peripheral
blood lymphocytes due to a history of infertility. The cytogenetics
laboratory reports a diploid 46,XY karyotype with an unusually large Y
chromosome which fluoresces brightly when stained with Q-banding.
, Which of the following information should be given to this individual
regarding his karyotype and his infertility?
a. The increased length of the heterochromatic region on the Y
chromosome is likely the reason for this individuals infertility
b. The increased length of the heterochromatic region on the Y
chromosome has been shown to increase the likelihood of
nondisjunction events occurring in meiosis
c. The length of the heterochromatic region on the Y chromosome has
no clinical significance and is highly unlikely the reason for this
individuals infertility
d. Both a and b - correct answer -The length of the heterochromatic
region on the Y chromosome has no clinical significance and is highly
unlikely the reason for this individuals infertility
Which of the following is FALSE concerning the order of chromosome
abnormalities in the written karyotypes of solid tumors?
a. Structural abnormalities are listed before numerical abnormalities
b. Unidentified markers are listed last
c. Multiple structural changes of homologous chromosomes are
presented in alphabetical order according to the abbreviated term of
the abnormality