Set of flashcards Examen (Page 4 of 4)

Flashcards	136
Language	Deutsch
Category	Medical
Level	University
Created / Updated	12.02.2020 / 13.02.2020
Weblink	https://card2brain.ch/box/20200212_examen
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4 Which statement about Huntington disease is true:

a] the number of CAG repeats may 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 clinical signs to appear

5 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

7 Mutations in DMD gene:

A) most frequently are whole exon(s) duplications

B) arise de novo in about one third of situations

C) „in-frame“ cause Duchenne Muscular Dystrophy

D) are always inherited from the mother-carrier

8 Which of the following facial features is most sensitive and specific for foetal... syndrome?

a) micrognathia

b) everted lower lip

c) short palpebral fissures

d) epicanthic folds

12 Find CORRECT statement about Edwards syndrome:

a) the diagnostic method of choice for Edwards syndrome is PCR

b) the phenotype includes: intrauterine growth deficiency, omphalocele and minor facial and hand

c) the frequency of trisomy 18 is not influenced by maternal age

d) trisomy 18 incompatible may result from parental robertsonian transloaction

14. An obligate carrier of a X-linked recessive mutation:

a) has a 50% chance of having an affected son

b) has a 25% risk of having an unaffected son

c) has no chances of having a healthy daughter

d) has no chance of having a healthy son

15 Holoprosencephaly is an anomaly typical for:

A. Turner syndrome ̈

B. Patau syndrome

C. Edwards syndrome

D. Down syndrome

16 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

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

a) Li-Fraumeni

b) Lynch

c) con Hippel-Lindau

d) FAP

18. 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

20. 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

e) it causes salty sweat

21. 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

23. Clinical criteria for neurofibromatosis type 1include

a) cafe-au-lat spots and Crewe sign

b) scoliosis and optic glioma

c) macrocephaly and axially freckling

d) Lisch-nodules and astigmatism

1. Find a FALSE statement:

A) Sporadic retinoblastomas are caused by germline RB1 mutaions

B) RB1isatumorsuppressorgene

C) Mutations in RB1 gene that cause retinoblastomas are classified as ”loss-a- function”

D) RB1 mutations carriers have a 100% risk of developing retinoblastoma

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

A) 3,4

B) 4,5

C) 1,2,5

4. Find INCORRECT statement about Prader-Willi syndrome?

A) HypogonadismistypicallyobservedinpatientswithPrader-Willisyndrome

B) Maternal uniparental disomy with the respect to the PWS region (11p15) might account for the development of Prader-Willi syndrome

C) In some clinical situations correct results of FISH for the PWS region do not exclude a diagnosis Prader-Willi syndrome

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