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1. Mrs, X, 30 years old just finished her anomaly scan at 20 weeks of gestations. Her ultrasound report presents severe IUGR, Choroid plexus cyst, over riding of fingers, horseshoe shaped kidney rocker bottom feet.
Her prenatal tests results are depicted in this image
What’s probable cause for features
2. Which is the most common trisomy in humans which causes major anomalies in fetus?
3. Regarding Numerical abnormalities of chromosomes all are true except
4. Match the chromosomal complement with the phenotype.
Epicanthic folds, hypertelorism, mental deficiency, single palmar crease
5. Large breasts, scanty axillary hair, absent uterus
6. A male that appears with tall stature, eunuchoidism, sometimes gynecomastia
7. Match the chromosomal complement with the phenotype given in image
8. Match the chromosomal complement with the phenotype given in image
9. The commonest cause for this syndrome is
Which of the following is the leading cause of Down Syndrome?
10. Which type of aneuploidy is shown in image?
11. Regarding structure of DNA all are true except
12. Regarding Numerical abnormalities of chromosomes all are true except
13. Image shows which type of fetal abnormality?
14. Which type of Chromosomal Numerical abnormality shown in image
15. Identify this translocation?
16. What is the most likely chromosomal abnormality responsible for this
17. The following conditions except one manifest only when the individual is homozygous for the mutant allele. Which one is the exception?
18. The following conditions are transmitted as autosomal dominant except for which one?
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