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Clinical Genetic Test

Old Questions Clinical Gentics

Old Questions Clinical Gentics

Kartei Details

Karten 184
Lernende 51
Sprache English
Kategorie Medizin
Stufe Universität
Erstellt / Aktualisiert 14.10.2016 / 06.02.2020
Lizenzierung Keine Angabe
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1. A diagnosis of RETT syndrome can be suspected in case of:

2. Soto’s syndrome is characterized by:

3. Which tumor is not typical for Von Hippel-Lindau syndrome?

4.  Find the false statement about achondroplasia:

5. Dynamic mutations contribute to the development of:


> dynamic mutation is same as "triplett repeat" 

6. What are recommendation regarding supplementation of folic acid in prevention of neural tube defects for the general population?

7.  A child with terminal deletion spanning the short arm of chromosome 4 was referred to clinical genetics unit. What findings do you expect on physical examination?



8. Macroglossia is typical for