Posted: September 29th, 2022

Reject all the rest.

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You work for a genetic counseling company that completes genetic tests during various stages in pregnancy to gauge the health of a fetus. One such screening test that you run on a regular basis is first-trimester aneuploidy screening (FTAS). For this test, collection of blood for biochemical analysis is performed between 9 and 14 weeks gestation to test for trisomy 21 and 18. Trisomy disorders represent a group of genetic abnormalities in which an extra copy of a chromosome is present, causing developmental abnormalities.
You are running FTAS on a blood sample shipped in this morning to your lab. The fetal karyotype created from the maternal sample can be found below. You notice an irregular number of copies for chromosome 21. This is indicative of trisomy 21 or Down syndrome. Which of the below statement best describes the events that transpired to result in this genetic abnormality detected with your screening test?
Of the following options, choose the one that would help to properly match the above scenario. Reject all the rest. For full points you must also provide an explanation for each case. Defend the correct choice with adequate justification. For those that are false, explain why they are incorrect.
Accept/Reject: A nondisjunction occurred during mitosis 2 of egg or sperm development resulting in an irregular split of homologous chromosomes.
Accept/Reject: A gamete with 24 chromosomes was brought together with a gamete containing 23 chromosomes during fertilization.
Accept/Reject: Given the impact this disorder has on the fetus’s sex chromosomes biological sex characteristics will likely be affected.
Accept/Reject: The error in chromosome division occurred during the S phase of the cell cycle.
Accept/Reject: The parents of this fetus should be informed that the chromosomal abnormality might resolve itself by the time the little boy is born.

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