Tushar Chauhan: Cytogenetic Challenge – It’s Your Turn to Solve the Case
Tushar Chauhan, Founder and Scientist at Genetic Education Academy, shared on LinkedIn:
“Cytogenetic Challenge 7
A fetal karyotype was performed following an ultrasound examination that showed multiple developmental abnormalities.
The fetus showed severe growth restriction along with abnormalities involving multiple organ systems. The ultrasound findings raised suspicion of an underlying chromosomal abnormality, so a fetal karyotype was performed.
Here is the karyotype.
Now it is your turn to solve the case.
Question 1
What is the total number of chromosomes in this karyotype?
Question 2
What is the most likely diagnosis?
Question 3 (Expert level)
Can you name any one possible mechanism that can lead to this chromosomal abnormality?
Take a close look at the karyotype before answering.
Share your answers in the comments.
Disclaimer: This case and karyotype are created and presented for educational and challenge purposes only. They do not represent a real fetus, pregnancy, or clinical case. The clinical findings and karyotype are used only to support the learning objective of this challenge.”
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