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
