Congenital, structural, biochemical disorders Flashcards
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
D) cleft palate
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
A) 1: 100
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
A) if there is no serious developmental defect, the lifetime is equal with the average population
What is the correct number of the human haploid chromosomes?
A) 22
B) 23
C) 44
D) 46
E) 69
B) 23
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
B) they are mostly immature and the gestational age is below under 30 weeks
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
B) X monosomy
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
A) foetal harm after 13. weeks of gestation
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
D) the risk slightly exceeds the average, pregnancy can be nullrecommended
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
A) it is the most common inherited form of amino acid metabolism disorder
What is the prevalence of phenylketonuria?
A) 1: 1500
B) 1: 10 000
C) 1: 25 000
D) 1: 70 000
B) 1: 10 000
What kind of disorder reminds galactosaemia manifesting in the neonatal age?
A) sepsis
B) idiopathic respiratory distress syndrome
C) meconium ileus
D) congenital hypothyroidism
A) sepsis
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
E) Guillain–Barré-syndrome
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
A) X-linked recessive
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
B) galactose-1-phosphate uridyltransferase
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)
D) cystic fibrosis (mucoviscidosis)
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
A) celiac disease
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
E) caput succedaneum
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.
E) Boys are more frequently affected with multifactorial (polygenic) inheritance.
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.
B) At the time of conceiving you must be attentive in the care of optimal maternal folic acid intake.
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
A) the mother is the transmitter
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
C) Bone marrow
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
B) The injury depends on both the type of effect and time of it
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
C) Fetal alcohol syndrome
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
E) Varicella
The most severe consequence of the intrauterine Listeria infection is:
A) microcephaly
B) purulent meningitis
C) pneumonia
D) peritonitis
E) myocarditis
B) purulent meningitis
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
B) 1st and 3rd answers are correct
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
B) 1st and 3rd answers are correct
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
A) 1st, 2nd and 3rd answers are correct
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
E) all of the answers are correct
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
A) 1st, 2nd and 3rd answers are correct
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
D) only the 4th answer is correct
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
A) 1st, 2nd and 3rd answers are correct
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
C) 2nd and 4th answers are correct
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
B) 1st and 3rd answers are correct
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
D) the only the 4th answer is correct
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
A) 1st, 2nd and 3rd answers are correct
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
E) all of the answers are correct
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
E) all of the answers are correct
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
E) all of the answers are correct
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
E) all of the answers are correct
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
C) 2nd and 4th answers are correct
