Lernkartei Clinical genetic exam 20 (Seite 1 von 3)

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The following are the most typical faciocranial defects seen in Patau syndrome:

macrocephaly, cleft palate, hypotelorism

macrocephaly, cleft lip and palate, microphthalmia

microcephaly, cleft lip and palate, microphthalmia

microcephaly, cleft lip , hypertelorism

(plagiocephaly, cleft lip and palate, microphthalmia)

The child with down syndrome:

has a 10-20% times higher risk of leukemia than the “normal” population

has a 10% chance of congenital heart disease

will have an IQ over 80

will be infertile regardless of gender

(is more likely to have an elderly father)

Who should you refer to a clinical geneticist?

a young couple with primary infertility

a child with dysmorphic features and behavioral problems

(a woman with breast cancer and family history of this malignancy)

a man with oligozoosperma

all of the above

Prader-Willi syndrome is in the MAJORITY of cases caused by:

maternal disomy of chromosome 15

paternal disomy of chromosome 15

microdeletion on chromosome 15q derived from father

microdeletion on chromosome 15q derived from mother

(an imprinting defect)

An individual with 47,XXY karyotype:

will present with ambiguous genitalia at birth

is most likely to present in childhood with precious puberty

will present at puberty with short stature

may present in adulthood with infertility

(none of the above)

Achondroplasia is a genetic disorder with:

incomplete penetrance

full penetrance

variable expressivity and incomplete penetrance

complex, heterogeneous molecular background

(is caused by an microdeletion in chromosome 3)

The following is TRUE about Smith-Lemli Opitz syndrome

the disease is caused by 7-dehydrocholesterol reductase deficiency

7-dehydrocholesterol serum levels are elevated

cholesterol serum levels are decreased

(7-dehydrocholesterol urine levels are elevated)

all sentences above are true

The following statements concerning cystic fibrosis are true EXCEPT:

(clinical symptoms include: chronic cough, pancreatic insufficiency which results in malabsorption of fatty stools)

Sweat chloride test is commonly performed at the time of diagnosis

The major cause of mortality is end stage pulmonary disease

Meconium ileus may be the first symptom

it is inherited in an autosomal dominant manner

Generalized hypotonia with onset in the first two months of the life, lack of tendon flexes, severe motor disability with muscle atrophy are typical for:

Duchenne muscular dystrophy

Werdnig-Hoffmann disease

Fragile x-syndrome

(Kugelberg-Welander disease)

Phenylketonuria

Intellectual disability, tall stature, marcoorchidism, dolichocephaly, mandibular prognathism, and protruding ears are typical clinical symptoms of a disease caused by:

mutation in FMR1 gene

a mutation in HTT (IT 15) gene

an additional X chromosome in a male

a mutation in MECP 2 gene

A woman whose son and brother have Duchenne muscular dystrophy?

is an obligatory mutation carrier

is not an mutation carrier

there is a 50% risk that the woman is a mutation carrier

there ist a 75% risk that the woman is a mutation carrier

Spinal muscular atrophy is characterized by the occurrence of:

subtypes classified by the age of onset and the severity of clinical symptoms

simultaneous mutation in SMN1 and SMN2 gene

intellectual disability

All of the above

Lissencephaly is common in:

Angelman syndrome

Miller-Dieker syndrome

Smith-Magenis syndrome

Williams syndrome

(Prader-Willi syndrome)

Ultrasonographic features of Down syndrome in fetus are:

1. increased size of nuchal translucency

2. decreased size of nuchal translucency

3. increaded ossification of nasal bone

4. decreased ossificaltion of nasal bone

5. shortened femur

6. bifid uvula

1, 4, 5

1, 3, 6

1, 3, 5, 6

2, 4, 5

Which diagnosis is the most probable in a 19-year-old boy with muscle weakness, difficulties in running and climbing stairs, elevated CPK serum levels and primary myopathic electromyography (EMG)?

Becker’s muscular dystrophy

Spinal muscular dystrophy

Duchenne muscular dystrophy

Juvenile Huntington’s disease

(Fragile X syndrome)

The Barr body is formed because of:

abnormalities in methylation process

inactivation of one of the two chromosomes X

disturbances in sex determination process

activation of SRY gene

(formation of bivalent by chromosome X)

In an individual with complete androgen insensitivity syndrome you expect the presence of:

ambiguous genitalia

the uterus and fallopian tubes

testes in the abdominal cave

epididymis, vas deferens, seminal vesicles

(normally developed male genitalia)

Which of the following statements about haemophilia A is false:

the severity of the disorder depends on the residual activity of the clotting factor

The Symptoms may be prevented by vitamin K supplementation

The disorder is inherited in an X-linked manner but girls may rarely present with mild symptoms

It may be significantly debilitating without proper management

(typically is diagnosed through clinical symptoms and the measurement of clotting factor activity but genetic testing is available)

Thanatophoric dysplasia:

is one of the most common non-lethal skeletal dysplasias diagnosed prenatally

is characterized by numerous intrauterine fractures hence is lethal in the perinatal period

is genetically heterogenous with mutations in different genes dependent on the type of the disorder

may be diagnosed prenatally by ultrasound showing micromelia, narrow thorax, and bowed femurs

(is inherited in an autosomal recessive manner with 25% recurrence risk)

Which tumors are specific for von hippel lindau syndrome?

Retinal haemangiblastoma, gastric cancer, clear cell renal carcinoma, pheochromocytoma

Pancreatic neuroendocrine tumor, endolympatic sac tumor, renal angiomy- olipoma, medullary thyroid cancer

Retinal heamangioblastoma, clear cell renal carcinoma, pancreatic endocrine tumor, colorectal adenocarcinoma

Pancreatic tumor, endolymphatic sac tumor, clear cell renal carcinoma, pheochromocytoma

(Endolymphatic sac tumor, clear cell renal carcinoma, pheochromocytoma, breast cancer, gallbladder cancer)

Which of the following statements is TRUE:

the undifferentiated primitive gonad is formed from the Wolff in males Muller canals in females.

The Wolff and Muller canals (ducts) develop into testes and ovaries, re- spectively.

( The presence of antimullerian hormone causes the regression of the bipo- tential gonad.)

Female external genitalia develop under the influence AMH

Male external genitalia develop under the influence of dihydrotestosterone.

Karyotype 48, XXX, +21 is an example of:

Nullisomy

Double trisomy

Triploidy

Tetrasomy

(Double monosomy)

47,XXX women:

are always completely infertile

have severe intellectual disability

have short stature

are often affected by premature ovarian failure

Choose the answer containing only malformation sequences:

Patau, Pierre-Robin

Pierre-Robin, CHARGE

Potter, CHARGE

Pierre-Robin, Potter

Which of the following statements about a carrier of a FMR1 premutation is FALSE:

she might develop a late onset progressive cerebellar ataxia

she has short fleshy tapering fingers

she might have primary ovarian insufficiency

her cognitive function is within normal range

(all of the above)

A newborn with ambiguous genitalia and congenital adrenal hyperplasia is expected to hav

XX chromosome/uterus/ovaries

XY chromosomes/no uterus/ testes in abdomen

XX chromosomes/uterus/testes In abdomen

XY chromosomes/no uterus/ testes in abdomen

(None of the above)

Men affected by cystic fibrosis are mostly infertile because of:

hypogonadotropic hypogonadism

hypergondatropic hypogonadism

congenital absence of the vas deferens

testectomy performed in early childhood due to bilateral gonadoblastoma

In which hereditary cancer predisposition syndromes malignancy often appears before adulthood?

FAP, HNPCC

HBC-ss, HOC-ss, HBOC-ss

FAP, hereditary retinoblastoma, Li-Fraumeni syndrome

hereditary retinoblastoma, hereditary gastric cancer

A non-progressive congenital morphologic anomaly of a single organ or body part due to an alternation of the primary developmental program is defined as:

malformation

deformation

disruption

dysplasia

(sequence)

What determines what DNA fragment you amplify during PCR:

DNA polymerase

nucleotides

restriction enzyme

primers

(none is correct)

An example of DNA lesion (damage) is:

a chemical modification of a nucleotide

C to T transition

nonsence mutation

missende mutation

(DNA denaturation)

Indicate a high resolution, genome wide method to study chromosomal aberrations:

PCR

sequencing

PCR-RFLP

array CGH

What is the function of DNA repair systems?

DNA mutation repair

DNA damage (lesion) repair

cell-cycle control

regulation gene expression

DNA methylation influences:

DNA replication

splicing

protein folding

chromatin compaction

Which of the following statements about Turner syndrome is TRUE?

45,X karyotype is universal

Tall stature in prepuberty is characteristic

Serum FSH is high in puberty

Uterine agenesis is characteristic

Which of the following statements about fragile X syndrome (FXS) is TRUE:

All mothers of individuals with an FMR1 full mutation carry the same mutation

Males with an FMR1 premutation are called "normal transmitting males"

Females heterozygous for the FMR1 full mutation never presents with symptoms of syndrome

Some of the males with an FMR1 full mutation may be asymptomatic

Which of the following statements is FALSE?

Individuals with Prader-Willi syndrome present in the newborn period with hypotonia and poor sucking reflex

The most common cardiovascular anomaly in Williams syndrome is SVAS (supravalvular aortic stenosis)

The main symptom of Angelman syndrome include a heart defect and thymus hypoplasia

Individuals with Smith-Magenis syndrome typically exhibit behavioral abnormalities (aggression, self-mutilation) and sleep disturbances

Which of the following statements about Huntington Disease (HD) is FALSE?

HD is caused by point mutations in the HTT gene localized on the short arm of chromosome 4.

Predicitve testing is not considered appropriate for asymptomatic at-risk individuals younger than age 18 years

Prominent rigidity with little chorea is associated with juvenile HD.

HD is associated with subcortical dementia and psychiatric symptoms

Which of the following statements about spinal muscular atrophy (SMA) is TRUE?

Different clinical types of SMA (type I-IV) are cause by different mutations in the SMN1 gene

SMA is an X-linked dominant disorder hence may manifest itself in females and males

SMA is associated with an abnormal protein found in the sarcomeres of muscle cells

The risk of having another affected child by SMA is 25% assuming the parents are carrier

Find a FALSE statement:

If possible, genetic testing of cancer predisposition syndromes should first include affected family members

In families affected by Huntington`s disease, pre-symptomatic genetic tests should never include children

Genetic testing of hereditary cancer predisposition syndromes should never be initiated before the age of 18 years

Consenting the patient before whole-exome sequencing should include agreement to report incidental findings

Clinical genetic exam 20

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