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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.
Karten
30
Lernende
2
Sprache
Englisch
Kategorie
Medizin
Stufe
Universität
Erstellt / Aktualisiert
23.01.2020 / 24.01.2020
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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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