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Genetik neu 2020

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L. M.
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L. M.
This flashcard set covers advanced genetic concepts at the university level, focusing on topics like DNA analysis methods, genetic syndromes, and patient-specific mutations. It delves into PCR techniques, gene coding, and various genetic disorders such as Angelman syndrome, Duchenne muscular dystrophy, and Li-Fraumeni syndrome. Medical professionals and students will find this set valuable for understanding genetic testing, diagnosing syndromes, and managing patient risks, particularly in reproductive health and hereditary conditions.
Cartes-fiches
30
Utilisateurs
2
Langue
Anglais
Catégorie
Médecine
Niveau
Université
Créé / Mis à jour
23.01.2020 / 24.01.2020
  • 1  / 30

Cartes-fiches

16. A 30 year old women with a historiography stillborn baby with simple trisomy 18 has:

1. White dots in the irises that may be observed in patients with Down syndrome are named:

2. Infertility in men with cystic fibrosis is caused by:

3. Point mutation in maternal copy of UBE3A gene might be a cause of:

4. Translocation that leads to Philadelphia chromosome forming is a genetic lesion of:

5. Coexistence of sarcomas and premenopausal breast cancer are typically seen in families with:

 

6. In Huntington disease as well as in Fragile X syndrome:

7. Greek warrior helmet facial dysmoephia, drug resistant epilepsy and microcephaly are crutial symptoms of:

8. How high is the risk of having a baby with Duchenne muscular dystrophy for a women who has an affected brother and affected first child?

9. Disproportionate hypotrophy (big head, small trucus) and enlarged, hydatidiform like placenta are prenatal presentation of:

 

10. Serum alpha- fetoprotein concentration in pregnant women is typically increased in case of foetal:

11. Progression degeneration of the anterior horns in the spinal cord is the pathology standing behind:

12. Motor disability in untreated heamophilia is caused by:

13. The phenotype in CAIS patients consist of:

 

14. Life threatening condition that might occur in neonates with CAH (congenital adrenal hypertrophy) is:

15. Prophytactic collecting should be considered in patients with:

 

17. Patient with Turner syndrome:

18. Kids with Beckwith wiedemann syndrome have an increased risk of malignancies especially:

19. Sundactyly is a dysmorphic term describing:

20. Nuchal translucency should be measured between:

21. 

22. Amniotic Band syndrome is caused by:

 

23. What kind of Ophthalmological symptoms might be found in patients with neurofibromatosis 1? 

24. The most common skeletal dysplasia is:

25. Gene coding DNA sequence is composed of: 

26. Indicate optimal method to detect triploid in patient:

 

27. Indicate optimal method for dynamic mutation:

28. DNA methylation is not associated with:

29. PCR is a technique used for:

30. What determines what DNA fragement you amplify during PCR:

 

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