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0 Exakte Antworten 0 Text Antworten 184 Multiple Choice Antworten
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1. A diagnosis of RETT syndrome can be suspected in case of:

a. A 4 -years old girl with regression in psychomotor development, which appeared at age of 2 years old and included deterioration of speech abilities and locomotion

b. A 3 years old girl with absent speech and global psychomotor retardation that appeared <during infancy

c. A 5-year-old boy with microcephaly and stereotypical band movements

d. A 2-month-old girl with seizures and microcephaly

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2. Soto’s syndrome is characterized by:

a. Macrocephaly and overgrowth

b. Macrocephaly and short stature

c. Microcephaly and overgrowth

d. Macrocephaly and short stature

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

a. Endolymphatic sac tumour

b. Haemangioblastoma

c. Clear cell renal carcinoma

d. Medullary thyroid cancer

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4.  Find the false statement about achondroplasia:

a. Loss of function mutations in the FGFR3 gene underling the development of achondroplasia

b. Recurrent middle ear infections might be the cause of hearing impairment in achondroplasia

c. Typical symptoms include prominent forehead and underdeveloped midface

d. Achondroplasia is an example of rhizomelic dwarfism

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5. Dynamic mutations contribute to the development of:

 

> dynamic mutation is same as "triplett repeat" 

a. Huntington disease

b. Fragile X syndrome

c. Friedreich ataxia

d. All answers are correct

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

a. 0.4 mg/day (supplementation should be initiated 3 months before conception and continued until the end of first trimester)

b. 4 mg/day (supplementation should be initiated 3 months before conception and continued until the end of first trimester)

c. 0.4 mg/day (supplementation should be initiated in 6 hbd and continued until the end of pregnancy)

d. 4 mg/day (supplementation should be initiated in 6 hbd and continued until the end of pregnancy)

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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?

 

 

a. Prominent glabella hypertelorism

b. Macroglossia with omphalocele

c. Macrocephaly and widely spread …. (a ward I can’t read )

d. Short sternum and cleft palate

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8. Macroglossia is typical for

a. Down syndrome

b. beckwith-wiedemann syndrome

c. wolf-Hirschhorn syndrome

d. answer A and B are correct