Set of flashcards Clinical Genetic Test (Page 5 of 5)

Flashcards	184
Students	51
Language	English
Category	Medical
Level	University
Created / Updated	14.10.2016 / 06.02.2020
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178. Which answer presents examples of mismatch repair genes (MMR)?

a. RAS,MYC,WNT

b. MLH1,MSH2,PSM1

c. TP53,APC VHL

d. WNT,ERK,MLH1

179. Anterior abdominal wall defects are one of major anomalies typical for

a. Silver-Russell syndrome

b. Beckwitch-Wiedmann syndrome

c. Prader-willi Syndrome

d. Angelman syndrome

180. Amniocentesis should be be recommended in the following clinical situations:

A 32-year old women in 14th week of gestation whose sister has a child with simple trisomy 21
A 40-year old women in the 20th week of gestation whose husband is a carrier of balanced robertsonian translocation between chromosome 14 and 21
A 37-year old women in the 16th week of gestation with 1:260 risk of Down’s syndrome estimated in integrated non-invasive prenatal testing
A 33-year odl woman in the 20th week of gestation with 1:280 risk of Down’s syndrome estimated in integrated non-invasive prenatal testing

a. 1,2,3,4

b. 2,3,4

c. 2,3

d. 3

181. Find a CORRECT statement about classical Rett syndrome (RS):

a. Clinical symptoms are clearly seen in newborn peroid and progress throughout the lifespan

b. Loss of function mutation in the MeCP2 gene that underlie the etiology of Rett syndrome lead to abbarant DNA methylation and contribute to dysregulation in expression of genes involved in brain development

c. The phenotype is characterised by macrocephaly, stereotypic movements of hands, gait, ataxia and lack of speech

d. De novo mutations in the MeCP2 gene account for the minority of Rett syndrome cases

182. Find a FALSE statement about haemophilias

a. The type of mutation is the gene encoding clotting factor VII has influence over the severity of the disease

b. Haemopilia A and B are inherited in the same mode

c. Genetic testing is compulsory for the diagnosis of the type of haemophilia

d. A manifesting carrier is a heterozygous women with mild symptoms

183. A male with mutation in the FMR1 gene is

a. Has a chance of developing fragile X-associated tremor/ataxia syndrome and passing it off to his daughter

b. Is not affected and is termed normal transmitting male

c. Affected with fragile X syndrome but his sons will not be affected

d. Infertile hence cannot transmit the disorder

184. Which mucopolysacchardosis is inherited as an X-linked recessive disease?

a.Sanfilippo syndrome

b. Hurler syndrome

c. Morquio syndrome

d. Hunter syndrome

185. If two daugthers of a couple had been diagnosed w/ Maroteaux-Lamy synd, the chance of another affected child is

a. 25%

b. 75%

c. 50%

d. 100%

186. Scalp defects are typically observed in newborns with

a. Patau synd

b. Edward syd

c. Wolf-Hirshhorn synd

d. Cri du chat synd

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)

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

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

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

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

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

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%

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

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

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

197. Tall stature IS NOT a typical manifestation of

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

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

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

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

Clinical Genetic Test

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