Lernkartei Clinical Genetic Test (Seite 1 von 5)

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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

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

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

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

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

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)

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

8. Macroglossia is typical for

a. Down syndrome

b. beckwith-wiedemann syndrome

c. wolf-Hirschhorn syndrome

d. answer A and B are correct

9. Indicate a cardiac anomaly that is most typical for turner syndrome

a. cardiomyopathy

b. aortic coarctation

c. fallot tetralogy

d. atrioventricular canal

10. The pedigree provided below, best represent the following mode of inheritance:

a. autosomal dominant

b. autosomal recessive

c. x-linked dominant

d. x-linked recessive

11. Find the true regarding the family member IV2:

a. her offspring will be always affected, regardless of her partner’s genotype

b. there is a 25% risk of recurrence in offspring if her partner is an asymptomatic carrier

c. there is a 50% risk of recurrence in offspring if her partner is affected by the same disease

d. her offspring will be always healthy if her partner does not have any mutation in the gene responsible for disease development

12. What is the meaning of pedigree chart used for designating individuals II.5 and II.6 ( a double line )

a. monozygotic twins

b. diaygotic twins

c. consanguine relative

d. -

13. Find a false statement about Rett syndrome:

a. it is caused by mutations in the MECP2 gene in the majority of cases

b. it is usually transmitted by mothers, who are asymptomatic carriers

c. the phenotype typically includes microcephaly, stereotypical hand movements and lack of speech

d. Rett-like syndromes and some variants of Rett syndrome might be associated with symptomatic manifestation in the neonatal period

14. Down syndrome is typically accompanied by:

a. brachycephaly

b. macrocephaly

c. plagiocephaly

d. trigonocephaly

15. Healthy parent has already one child with spinal muscular atrophy. What is the risk of having another child with this condition?

a. 25%

b. 50%

c. 75%

d. The same as in the general population

16. Find a major anomaly

a. bifid uvula

b. cleft palate

c. Hypertelorism

d. Epicanthic fold

17. Find a risk factor of neural tube defects during pregnancy:

a. Malnutrition

b. Anticonvulsant

c. Alcohol abuse/dependence

d. All answers are correct

18. a-L-iduronates deficiency does not manifest in

a. coarse facial features

b. ‘musty or mousy ‘ odour of urine

c. Corneal clouding

d. Hepatosplenomegaly

19. Mutations in APC gene might be the cause of:

a. Lynch I syndrome

b. Muir-Torre syndrome

c. Turcot syndrome

d. Lynch II syndrome

20. What is the explanation of a female carrier of DMD gene mutation to have clinical signs of muscle weakness?

a. skewed X-inactivation

b. a dominant mutation

c. triple X in this female

d. female carriers are never symptomatic - it is impossible!

21. Altered shape of position of body part due to aberrant mechanical forces that distors an otherwise normal structure is the definition of:

a. disruption

b. malformation

c. deformation

d. dysplasia

22. Find a CORRECT statement about fragile X syndrome:

a. it is caused by a point mutation

b. t is an X-linked disorder

c. premutations cause intellectual disability

d. full mutations are never symptomatic in females

23. Haemophilia A:

a. is caused by a defective factor VIII

b. results in anaemia

c. is caused by mutations in a gene encoding factor IX

d. is autosomal recessive

24. Wolf-Hirschhorn syndrome:

a. is caused by duplication of 4p fragment

b. in most cases is diagnosed (confirmed) through classical karyotyping

c. is usually called 5p- syndrome

d. does not have a known aetiology

25. Most Rett syndrome affected individuals present with:

a. congenital heart defects

b. delayed psychomotor development

c. central nervous system malformations

d. regression of psychomotor development

26. Find a TRUE statement:

a. a normal FISH (probe: 15q11-13) result excludes the diagnosis of Angelman syndrome

b. hemihyperplasia, large tounge, creases on the ear lobe are features indicative of Beckewith-Wiedemann syndrome

c. talkativeness, moderate mental retardation and lack of speech development are features of Prader-Willi syndrome

d. when lissencephaly on MRI is found, one must consider the diagnosis of Rett syndrome

27. Increased nuchal translucency found on ultrasound at 13th week of gestation:

a. means that the foetus is affected by aneuploidy

b. means that the foetus is affected by a heart defect

c. is an indication for invasive prenatal testing

d. must be measured again at 16th week of gestation

28. Endometrial, ovarian, small intestine and bile duct cancers are associated with the following cancer predisposition syndrome:

a. Li-Fraumeni

b. Lynch Syndrome

c. con Hippel-Lindau

d. FAP

29. What genetic mechanisms are responsible for Prader-willi syndrome?

a. paternal deletion of the 15q11-q13 region

b. maternal deletion of the 15q11-q13 region

c. paternal disomy of chromosome 15

d. point mutations in the UBE3A

30. Elevated blood calcium levels, supravalvular aortic stenosis and facial dysmorphic features characterize:

a. DiGeorge syndrome (decreased blood calcium levels)

b. Williams syndrome

c. Angelman syndrome

d. Prader-willi syndrome

31. Find an INCORRECT statement about cystic fibrosis:

a. it is inherited in an autosomal dominant pattern

b. it causes malabsorption of proteins and fats

c. it is characterised by chronic cough and recurrent pneumonia

d. it causes salty sweat

32. Achondroplasia is one of the genetic causes of the short stature. Find a TRUE statement:

a. the short stature is proportionate

b. the short stature develops around 3-4 years of life

c. it can be diagnosed as early as the third trimester through ultrasound measurements of the long bones and OFC

d. an be successfully treated with growth hormone

33. Find a TRUE statement:

a. immunodeficiency is common in DiGeorge syndrome

b. low birth weight is frequent in Beckwith-Wiedemann syndrome

c. individuals with Smith-Magenis syndrome have no sleeping distubances

d. cri-du-chat syndrome causes hypercalcemia

34. Clinical criteria for neurofibromatosis type 1 include

a. cafe-au-lat spots and Crowe sign - in case this is written choose this

b. scoliosis and optic glioma

c. macrocephaly and axially freckling

d. Lisch-nodules and astigmatism

35. Which of the following describes correctly Potter sequence?

a. kidney aplasia -> foetal compression -> micrognathia and cleft palate 

b. oesophageal atresia -> polyhydramnios -> limb deformation

c. bilateral renal agenesis -> oligohydramnios -> foetal compression

d. oligohydramnios -> micrognathia - > cleft palate 

36. Familial adenomatous polyposis is a cancer predisposition syndrome caused by:

a. constitutional mutations in APC gene 

b. constitutional mutations in MMR gene 

c. somatic mutations in APC gene 

d. somatic mutations in MMR gene 

37. Find TRUE statements about sex chromosome aneuploidies:

a. most of 47, XXX females have a benign phenotype and remain undiagnosed into adulthood 

b. structural aberrations of the X chromosome consistent with Turner Syndrome cause  ambiguous genitalia 

c. most of the cases of Klinefelter Syndrome are diagnosed in infancy due to the presence of characteristic phenotype and birth defects 

d. monosomy of X chromosome is one of the causes of precocious puberty  

38. Which statement about Huntington Disease is TRUE:

a. the number of CAG repeats may never increase from generation to generation 

b. the causative mutations in HTT gene may be point mutations  

c. both alleles of HTT gene must be mutated for the clinical signs to appear 

d. the penetrance of the mutation increases to 100% with age  

39. Clinical symptoms of Rett Syndrome include:

a. microcephaly, abnormal psychomotor development from birth, lack of speech 

b. microcephaly, regression period, good eye contact 

c. congenital heart defect, lack of eye contact, ataxia 

d. talkativeness, ataxia, good eye contact 

40. This symbol in a pedigree represents:

a. an unaffected male 

b. a male with a X - linked disorder 

c. an affected male proband 

d. an affected female 

Clinical Genetic Test

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