Examen
Genetik 16.17.18
Genetik 16.17.18
Fichier Détails
| Cartes-fiches | 136 |
|---|---|
| Langue | Deutsch |
| Catégorie | Médecine |
| Niveau | Université |
| Crée / Actualisé | 12.02.2020 / 13.02.2020 |
| Lien de web |
https://card2brain.ch/box/20200212_examen
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5 Clinical symptoms of Rett Syndrome include:
7 Mutations in DMD gene:
8 Which of the following facial features is most sensitive and specific for foetal... syndrome?
12 Find CORRECT statement about Edwards syndrome:
14. An obligate carrier of a X-linked recessive mutation:
15 Holoprosencephaly is an anomaly typical for:
16 Increased nuchal translucency found on ultrasound at 13th week of gestation:
17. Endometrial, ovarian, small intestine and bile duct cancers are associated with the following cancer predisposition
18. What genetic mechanisms are responsible for Prader-willi syndrome?
20. Find an INCORRECT statement about cystic fibrosis:
21. Achondroplasia is one of the genetic causes of the short stature. Find a TRUE statement:
23. Clinical criteria for neurofibromatosis type 1include
1. Find a FALSE statement:
3. Which patient(s) meet the clinical criteria of neurofibromatosis type 1
1) 16-year-old male with seven cafe au lait spots of 2cm in diameter each and
scoliosis
2) 7-year-old boy witg short and several fibromas
3) 18-year-old female with two Lisch nodules and freckling in the armpits
4) 16-year-old female with one plexiform neurofibroma and groin freckling
5) A 7-year-old boy with 5 cafe au lait spots of 1cm in diameter each and one
cutaneous neurofibroma
4. Find INCORRECT statement about Prader-Willi syndrome?
1. In general methylation of CpG islands may be linked to
2. What are CpG islands
3. ... of gene expression finalizes with a synthesis of
4. Human DNA is condensed to chromatin
5. histone code refers to
6. Indicate an optimal method to detect aneuploidy in a patient
7. The structure that allows each duplicated eukaryotic chromosome to be pulled into a daughter cell is called a
6. features of fetal alcohol syndrome include:
7. which feature is not characteristic for ADPKD?
8. Which patient has the features MOST suggestive of marfan syndrome?
9. Features of angelman syndrome include:
10: Elongated palpebral fissures with eversion of the lateral third of the lower eyelid and fetal pads are typical for:
11: Two siblings were referred to a clinical geneticist because of the short stature, progressive hepatosplenomegaly, coarsening of facial features and skeletal abnormalities. The diagnosis of autosomal recessive disease was established. What is the name of the disease?
12: An 8-month old boy with the diagnosis of werdnig-hoffmann disease (confirmed by genetic tests) was referred to a clinical geneticist. Parents ask about prognosis and the course of the disease. You will inform them that the Werdnig- Hoffmann disease characteristic are:
13: Which features are typical for ataxia-telangiectasia?
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