Set of flashcards Clinical Genetic Test

Flashcards	184
Students	51
Language	English
Category	Medical
Level	University
Created / Updated	14.10.2016 / 06.02.2020
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187. Congenital bilateral aplasia of vas deferens (CBAVD) is the consequence of mutations in the … gene

a. DHCR7

b. AR(NR3C4)

c. CFTR

d. GR(NR3C1)

a. DHCR7

b. AR(NR3C4)

c. CFTR

d. GR(NR3C1)

188. Find a CORRECT statement about achondroplasia

a. Its caused by the loss of function mutation in the FGFRH3 gene

b. Patients with achondroplasia present short stature and shortening of distal parts of limbs

c. It is an autosomal recessive disease caused bt the gain of function mutations in the FGFR3 gene

d. Patients with achondroplasia present large head with prominent forehead and small midface

a. Its caused by the loss of function mutation in the FGFRH3 gene

b. Patients with achondroplasia present short stature and shortening of distal parts of limbs

c. It is an autosomal recessive disease caused bt the gain of function mutations in the FGFR3 gene

d. Patients with achondroplasia present large head with prominent forehead and small midface

189. Which patient(s) meet the clinical criteria of neurofibromatosis type 1

16-year-old male with seven cafe au lait spots of 2cm in diameter each and scoliosis
7-year-old boy witg short and several fibromas
18-year-old female with two Lisch nodules and freckling in the armpits
16-year-old female with one plexiform neurofibroma and groin freckling
A 7-year-old boy with 5 cafe au lait spots of 1cm in diameter each and one cutaneous neurofibroma

a. 1,2,5

b. 3,4,5

c. 3,4

d. 4,5

a. 1,2,5

b. 3,4,5

c. 3,4

d. 4,5

190. Match typical clincal findings with genetic syndrome:

Elfin’ facial appearance
Greek warrior helmet facial appearance
Horseshoe kidney
Thymic hypoplasia

I DiGeorge syndrome

II William syndrome

III Turner sydnrome

IV Wolf-Hirshhorn Sydrome

a. I-a II-b III-c IV-d

b. I-c II-b III-c IV-a

c. I-d II-a III-b IV-c

d. I-d II-a III-c IV-b

a. I-a II-b III-c IV-d

b. I-c II-b III-c IV-a

c. I-d II-a III-b IV-c

d. I-d II-a III-c IV-b

191. A 26-year-old women in her second pregnancy comes to seek your advice. The child from gestation I has Duchenne muscular dystrophy. To answer the question if the foetus is affected by the sane disorder, you suggest.

a. Prenatal 3D ultrasound examination, in which reduced volume of proximal muscles will be diagnostic for Duchenne muscular dystrophy

b. A molecular diagnostic test performed on DNA obtained from Amniocytes

c. FISH test performed on foetal DNA obtained chorionic villus sampling

d. Sequencing of the DMD gene performed on DNA obtained from mother’s and father’s leukocytes

a. Prenatal 3D ultrasound examination, in which reduced volume of proximal muscles will be diagnostic for Duchenne muscular dystrophy

b. A molecular diagnostic test performed on DNA obtained from Amniocytes

c. FISH test performed on foetal DNA obtained chorionic villus sampling

d. Sequencing of the DMD gene performed on DNA obtained from mother’s and father’s leukocytes

192. Find correct matching of most common cardiac and eye phenotype with genetic syndromes:

Down syndrome
Wilson disease
Marfan syndrome
William syndrome

a) Kayser-Fleischer ring
b) Stellate pattern of iris
c) Brushfield spots
d) Lens dislocation
e) Atrioventricular canal
f) Aortic aneurysm
g) Cardiomyopathy
h) Supravalvular aortic stenosis

a. 1- c,g & 2-a, g

b. 3-d e & 4-b,f

c. 1-c,h & 3-d, f

d. 2-a,g & 4-b,h

a. 1- c,g & 2-a, g

b. 3-d e & 4-b,f

c. 1-c,h & 3-d, f

d. 2-a,g & 4-b,h

193. What os the theoretical risk of miscarrage when father is a carrier of balanced robertsonian translocation between chromesome 14 and 21, while mother has a correct female karyotype?

a. 100%

b. 50%

c. 33.3%

d. 25%

a. 100%

b. 50%

c. 33.3%

d. 25%

194. Congenital hypertrophy of retinal pigment epithelium might be the first manifestation of

a. FAP

b. HNPCC

c. Li-Fraumeni syndrome

d. Williams syndrome

a. FAP

b. HNPCC

c. Li-Fraumeni syndrome

d. Williams syndrome

195. Which anomly IS NOT typical for VACTERL association?

a. Vertebral anomlies

b. Cardiac anomlies

c. Aninda

d. Esophageal atresia

a. Vertebral anomlies

b. Cardiac anomlies

c. Aninda

d. Esophageal atresia

196. Down syndrome is associated with a higher risk of:

Alzheimer’s disease
Hypothyroidism
Leukemia
Epilspy

a. 1,2,3,4

b. 2,3,4

c.2,4

d. 3,4

a. 1,2,3,4

b. 2,3,4

c.2,4

d. 3,4

197. Tall stature IS NOT a typical manifestation of

a. Klinefelter syndrome

b. Marfan syndrome¨

c. Beckwitch-Wiedmann syndrome

d. Down’s syndrome

a. Klinefelter syndrome

b. Marfan syndrome¨

c. Beckwitch-Wiedmann syndrome

d. Down’s syndrome

198. Find INCORRECT statement about Prader-Willi syndrome?

a. Maternal unipaternal disomy with respect to the PWS region (11p15) might account for the development of Prader-Willi

b. Hypogonadism is typically observed in patients with Prader-Willi syndrome

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

d. Hypotonia in newborns with Prader-Willi syndrome represents one of clinical criteria

a. Maternal unipaternal disomy with respect to the PWS region (11p15) might account for the development of Prader-Willi

b. Hypogonadism is typically observed in patients with Prader-Willi syndrome

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

d. Hypotonia in newborns with Prader-Willi syndrome represents one of clinical criteria

199. What might be the primary defect in the Potter sequence?

a. Oligohydramnios

b. Pulmonary hypoplasia

c. Microretrognathia

d. Renal agenesis

a. Oligohydramnios

b. Pulmonary hypoplasia

c. Microretrognathia

d. Renal agenesis

200. Find a correct statement about translocation

a. It is always unbalanced aberration

b. Robertsonian translocation may involve chromosome 13,14,15,16,21 and 22

c. It os always a balanced aberration

d. It may account for miscarriage

a. It is always unbalanced aberration

b. Robertsonian translocation may involve chromosome 13,14,15,16,21 and 22

c. It os always a balanced aberration

d. It may account for miscarriage

201. Find TRUE statements about sex chromosome aneuploidies:

>watch out same question as in Q37 but different answers!!!<

a. most of 45x females have a being phenotype and remain undiagnosed into adulthood

b. structural aberrations of the x chromosome are frequently consistent with turner syndrome

c. most of the cases of 47 xxx syndrome are diagnosed in infancy due to presence of characteristic phenotype and birth defects

d. trisomy of x chromosome is one of the causes o f precocious puberty

a. most of 45x females have a being phenotype and remain undiagnosed into adulthood

b. structural aberrations of the x chromosome are frequently consistent with turner syndrome

c. most of the cases of 47 xxx syndrome are diagnosed in infancy due to presence of characteristic phenotype and birth defects

d. trisomy of x chromosome is one of the causes o f precocious puberty

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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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

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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

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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

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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

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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)

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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

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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

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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

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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

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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

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. -

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

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

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

a. 25%

b. 50%

c. 75%

d. The same as in the general population

Clinical Genetic Test

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