Congenital, structural, biochemical disorders

Question 1

Typical signs/symptoms of Down syndrome include the following, except for one:
A) brachycephaly
B) epicanthus
C) big tongue
D) cleft palate
E) muscle hypotonia

Answer 1

D) cleft palate

Question 2

The risk of a 41-year-old woman to give birth to a child with Down syndrome is:
A) 1: 100
B) 1: 350
C) 1: 800
D) 1: 1200
E) 1: 1850

Answer 2

A) 1: 100

Question 3

Regarding the prognosis of Down syndrome, the following statements are true, except:
A) if there is no serious developmental defect, the lifetime is equal with the average population
B) IQ level is various, but rarely higher than 60
C) women are fertile
D) men are sterile
E) the final height is below 10th percentile of the average population

Answer 3

A) if there is no serious developmental defect, the lifetime is equal with the average population

Question 4

What is the correct number of the human haploid chromosomes?
A) 22
B) 23
C) 44
D) 46
E) 69

Answer 4

B) 23

Question 5

These features are characteristic for Edwards syndrome, except for one:
A) severe intrauterine dysmaturity (growth retardation)
B) they are mostly immature and the gestational age is below under 30 weeks
C) finger III is covered by finger II, finger IV is covered by finger V
D) congenital anomaly of the heart
E) only a few survive the 2nd year of life

Answer 5

B) they are mostly immature and the gestational age is below under 30 weeks

Question 6

Children nullsuffering from the following chromosomal abnormalities are not nulllikely to survive, except for one
A) autosomal monosomy
B) X monosomy
C) 21-monosomy
D) triploidy
E) 13-trisomy

Answer 6

B) X monosomy

Question 7

What is foetopathy?
A) foetal harm after 13. weeks of gestation
B) foetal harm between 2-13. weeks of gestation
C) it is the consequence of the failure of first cell divisions after fertilization
D) chromosome-related illness of the foetus

Answer 7

A) foetal harm after 13. weeks of gestation

Question 8

What would you nullrecommend a healthy second degree cousin couple who want to get married?
A) do not undertake nullpregnancy due to nullhigh genetic risk
B) childbirth can only be undertaken under regular 3-week ultrasound follow-up during pregnancy
C) there is nullhigh risk of foetal chromosome aberration, so chorionic villi sampling is recommended
D) the risk slightly exceeds the average, pregnancy can be nullrecommended

Answer 8

D) the risk slightly exceeds the average, pregnancy can be nullrecommended

Question 9

What is not typical of homocystinuria?
A) it is the most common inherited form of amino acid metabolism disorder
B) disturbance of sulphur-containing amino acids
C) patients are mentally retarded
D) luxation of lens can be detected
E) body height exceeds the average

Answer 9

A) it is the most common inherited form of amino acid metabolism disorder

Question 10

What is the prevalence of phenylketonuria?
A) 1: 1500
B) 1: 10 000
C) 1: 25 000
D) 1: 70 000

Answer 10

B) 1: 10 000

Question 11

What kind of disorder reminds galactosaemia manifesting in the neonatal age?
A) sepsis
B) idiopathic respiratory distress syndrome
C) meconium ileus
D) congenital hypothyroidism

Answer 11

A) sepsis

Question 12

All of these disorders are detectable prenatally, except:
A) arginine-succinic acid disease
B) cystathionine beta synthase deficiency
C) Hunter-syndrome
D) Lesch–Nyhan-syndrome
E) Guillain–Barré-syndrome

Answer 12

E) Guillain–Barré-syndrome

Question 13

What is the inheritance of Duchenne muscular dystrophy?
A) X-linked recessive
B) X-linked dominant
C) autosomal recessive
D) autosomal dominant
E) not inherited, developed postnatally through an autoimmune manner

Answer 13

A) X-linked recessive

Question 14

Which enzyme defect is responsible for „classic” galactosaemia?
A) galactokinase
B) galactose-1-phosphate uridyltransferase
C) uridyl-diphosphate-galactose-4-epimerase
D) glucose-6-phosphatase

Answer 14

B) galactose-1-phosphate uridyltransferase

Question 15

Which disease is in the background if the neonatal presentation symptom is meconium ileus?
A) Hirschsprung’s disease
B) congenital hypothyroidism
C) enteritis necrotisans
D) cystic fibrosis (mucoviscidosis)

Answer 15

D) cystic fibrosis (mucoviscidosis)

Question 16

During infancy an enlarged tongue is characteristic of the disorders listed below, except for one:
A) celiac disease
B) Down syndrome
C) Wiedemann–Beckwith syndrome
D) Hurler disease
E) hypothyroidism

Answer 16

A) celiac disease

Question 17

Morphogenetic variants (minor anomalies) are the following, except for one:
A) multiple hair whorls
B) hypertelorism
C) mamilla accessoria
D) bifid uvula
E) caput succedaneum

Answer 17

E) caput succedaneum

Question 18

Congenital pyloric stenosis is characterised by one of the following:
A) It is often associated with other developmental abnormalities.
B) In mothers toxaemia of pregnancy is frequently present.
C) Autosomal recessive inheritance is present in the affected girls.
D) The prevalence is the same among boys and girls due to maternal smoking.
E) Boys are more frequently affected with multifactorial (polygenic) inheritance.

Answer 18

E) Boys are more frequently affected with multifactorial (polygenic) inheritance.

Question 19

How can we prevent the development of spina bifida/anencephaly?
A) The use of contraceptives must be halted to be finished at least half a year before prior to the planned conceiving.
B) At the time of conceiving you must be attentive in the care of optimal maternal folic acid intake.
C) During the first trimester, the mother should consume at least 250 mg of vitamin C daily.
D) The mother should follow a low cholesterol diet.

Answer 19

B) At the time of conceiving you must be attentive in the care of optimal maternal folic acid intake.

Question 20

It is characteristic of inheritance of mitochondrial diseases:
A) the mother is the transmitter
B) only the father can be the transmitter
C) the mother and the father could transmit the disease, but mainly it manifests in girls
D) gender does not influence the inheritance

Answer 20

A) the mother is the transmitter

Question 21

Mutations of mitochondrial DNA can cause a disease mostly of the following organs, except for one:
A) Central nervous system
B) Muscles, connective tissue
C) Bone marrow
D) Liver
E) Heart and blood vessels

Answer 21

C) Bone marrow

Question 22

Characteristic for teratogenic effects:
A) The onset of the defect is immediately after the fertilization
B) The injury depends on both the type of effect and time of it
C) The consequences of the teratogenic effects are more severe in mothers older than 35 years
D) The same teratogenic effect may have variable manifestations in different ethnic groups

Answer 22

B) The injury depends on both the type of effect and time of it

Question 23

A newborn is presented with intrauterine atrophy, difficulties in feeding, developmental delay, muscle hypotonia, short palpebral fissure, snub nose, hypoplastic maxilla and flat philtrum. These signs are suspicious for:
A) Mosaic Down syndrome
B) Phenylketonuria
C) Fetal alcohol syndrome
D) Fetal hydantoin syndrome
E) Congenital rubella syndrome

Answer 23

C) Fetal alcohol syndrome

Question 24

One of the following viral infections during pregnancy can result in developmental malformation in the fetus:
A) Parotitis epidemic
B) Influenza A2
C) Hepatitis A
D) Hepatitis B
E) Varicella

Answer 24

E) Varicella

Question 25

The most severe consequence of the intrauterine Listeria infection is:
A) microcephaly
B) purulent meningitis
C) pneumonia
D) peritonitis
E) myocarditis

Answer 25

B) purulent meningitis

Question 26

Which chromosome aberration can induce Down syndrome?
1) Non-disjunction, otherwise known as clear trisomy
2) Balanced translocation
3) Mosaic trisomy
4) Point mutation

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 26

B) 1st and 3rd answers are correct

Question 27

There is a newborn with multiple congenital malformations. Which of the following statements are true?
1) It is necessary to exclude the intrauterine infection (TORCH) in the mother and newborn as well.
2) If the past medical history was negative during the pregnancy, the teratogenic effect could be excluded.
3) We need to set up the etiologic diagnosis even in the case of perinatal death.
4) If the malformations are too severe and there is no chance of survival, it is not recommended to burden the newborn with further examinations to find the diagnosis.

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 27

B) 1st and 3rd answers are correct

Question 28

Which infant metabolic disease could be treated by diet?
1) Galactosemia
2) Maple syrup urine disease (MSUD)
3) Homocystinuria
4) Lesch–Nyhan syndrome (LNS, juvenile gout)

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 28

A) 1st, 2nd and 3rd answers are correct

Question 29

The Turner syndrome could be recognized based on the following:
1) Low birth weight
2) Swollen hands and feet are seen at birth
3) Webbed neck
4) Low hairline at the back of the neck

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 29

E) all of the answers are correct

Question 30

The typical symptoms of Klinefelter syndrome:
1) tall body height
2) gynecomastia
3) delayed puberty
4) stenosis of the aorta

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 30

A) 1st, 2nd and 3rd answers are correct

Question 31

The symptoms of the triple-X (47, XXX) syndrome can be:
1) unusually large breasts
2) early puberty
3) striae on the trunk and abdomen
4) female body type at the physical examination

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 31

D) only the 4th answer is correct

Question 32

Indication for chromosome test can be:
1) severe mental retardation
2) uncertain gender of the newborn
3) multiple minor abnormalities
4) suspicion of an X linked inheritable disease

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 32

A) 1st, 2nd and 3rd answers are correct

Question 33

It’s worth to conduct a neonatal screening for a disease if it is:
1) extremely rare, and would not be suspected normally
2) asymptomatic in newborns, but later it causes irreversible damage
3) causes early mortality, therefore you have to prepare the parents
4) at early recognition, it can be treated effectively

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 33

C) 2nd and 4th answers are correct

Question 34

Congenital malformations associated with polyhydramnios:
1) duodenal atresia
2) renal agenesis
3) esophageal atresia
4) pulmonary hypoplasia

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 34

B) 1st and 3rd answers are correct

Question 35

The result of the chromosomal analysis made from chorion sample can be affected by:
1) blood in the sample
2) infection
3) limited mitosis
4) the mix of maternal cells

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) the only the 4th answer is correct
E) all of the answers are correct

Answer 35

D) the only the 4th answer is correct

Question 36

The three main groups of the genetically determined birth defects can be categorized as originating from monogenic, polygenic and chromosomal harm. Which ones of these statements can be true for the main characteristics?
1) the monogenic harm inherit under Mendel’s laws
2) family aggregation can occur in all three groups
3) chromosome disorders can cause multiple congenital malformations
4) monogenic harm can be excluded if, excluding the affected child, no one is ill

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 36

A) 1st, 2nd and 3rd answers are correct

Question 37

A way of inheritance that is divergent from the classic Mendel’s law can be defined with the notion below:
1) uniparental disomy
2) imprinting
3) triplet amplification
4) mitochondrial inheritance

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 37

E) all of the answers are correct

Question 38

Typical symptoms of phenylketonuria are:
1) the newborn seems healthy at physical examination
2) eczema
3) thin, blond hair
4) neurological symptoms

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 38

E) all of the answers are correct

Question 39

What symptoms can make you consider storage disorders on the wide spectrum?
1) coarsening of facial features
2) thick, bushy hair and eyebrows
3) big tongue
4) hepatosplenomegaly

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 39

E) all of the answers are correct

Question 40

Which statements are correct for Fragile X syndrome, the most common background for congenital mental retardation?
1) Mental retardation is more frequent and severe in boys
2) The mutation is unstable, it can change during inheritance and also in the body
3) The disorder can develop through CGG triplet amplification
4) Appearance in the family doesn’t follow Mendel’s laws

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 40

E) all of the answers are correct

Question 41

Marfan syndrome is inherited in the autosomal dominant pathway. The inheritance of the disorder is monogenic but still affect more organs. Which concept can explain that?
1) mosaicism
2) the cause of the symptoms is the mutation of that one gene that affects the synthesis of the connective tissue called fibrillin
3) increased expressivity
4) pleiotropy

A) 1st, 2nd and 3rd answers are correct
B) 1st and 3rd answers are correct
C) 2nd and 4th answers are correct
D) only the 4th answer is correct
E) all of the answers are correct

Answer 41

C) 2nd and 4th answers are correct