answer this qcm about genetics correctly:     106. Main chromosomal abnormalities that can be identified by prenatal diagnosis after amniocentesis:
        1. Trisomy 1 (complete)
        2. Trisomy XXY
        3. Trisomy 18
        4. Trisomy 13
        5. Monosomy X
        6. Monosomy Y
        7. Monosomy 16
        8. Trisomy 21
        9. Tetraploidy
        10. Monosomy 3
    107. Prenatal screening for trisomy 21 (Down syndrome) is based on:
        1. Increased human chorionic gonadotrophin (hCG) values
        2. Low human chorionic gonadotrophin beta fraction (βhCG) values
        3. Increased values of unconjugated estriol (µE)
        4. Low values of unconjugated estriol (µE)
        5. Increased alpha-fetoprotein A (AFP) values
        6. Evidence of a nuchal fold (nuchal translucency) less than 2 mm
        7. Low alpha-fetoprotein A (AFP) values
        8. Low protein A associated with pregnancy (PAPP-A) values
        9. Increased protein A associated with pregnancy A (PAPP-A) values
        10. Ultrasound evidence of a shorter femur or humerus
    108. Prenatal screening for trisomy 21 (Down syndrome) can be done by:
        1. First-trimester maternal serum screening
        2. Ultrasound evidence of morphological features in the third trimester of pregnancy (nuchal translucency greater than 3 mm)
        3. Low protein A associated with pregnancy (PAPP-A) and increased human chorionic gonadotrophin beta fraction (βhCG) values in the first trimester
        4. Chromosome analysis after amniocentesis in week 7 of pregnancy
        5. Ultrasound evidence of morphological features in the first trimester of pregnancy (nuchal translucency greater than 3 mm)
        6. Chromosome analysis after amniocentesis in week 4 of pregnancy
        7. Low human chorionic gonadotrophin (hCG) values
        8. Quad test in the second trimester of pregnancy
        9. Triple test in the second trimester of pregnancy
        10. Triple test in the first trimester of pregnancy
    109. The main steps of genetic counselling sessions are:
        1. Discuss reproductive options with family members, respecting the autonomy and religious or ethnic concepts of the family
        2. Communicate the recurrence risk (including the clinical presentation of the disease, treatment, prognosis, and complications)
        3. Determine the chances of cure of the condition
        4. Establish the proportion of environmental factors in the aetiology of the disease
        5. Establish a correct and complete diagnosis
        6. Check the genetic nature of the disorder
        7. Communicate only the diagnosis (no data about the clinical presentation of the disease, treatment, prognosis or complications)
        8. Determine the risk for the couple/ person asking for genetic counselling (depending on the type of disease)
        9. Discuss reproductive options with third parties, independent of the autonomy and religious or ethnic concepts of the family
        10. Establish the differential diagnosis
    110. Genetic counselling is offered for:
        1. Consanguinity
        2. Couple with affected children- intellectual disability
        3. Abnormal prenatal screening
        4. Couple with affected children- birth defects
        5. Stressful situations
        6. Ageing
        7. Burns
        8. Infertility
        9. Infectious diseases
        10. Accident
    111. The main steps of genetic counselling sessions are:
        1. No other clinical consultations required
        2. Communicate the risk to the individual (of developing symptoms)
        3. Imaging investigations are not important
        4. Check genetic nature by genetic tests
        5. Communicate the risk to future offspring and how the disease is transmitted
        6. Check genetic nature by drawing the pedigree
        7. The results of laboratory tests (haemolucogram and biochemistry) are not important
        8. Establish the diagnosis
        9. Administration of antithermics
        10. Administration of analgesics
    112. Genetic counselling is offered for:
        1. Couple with affected children- birth defects
        2. Trauma
        3. Poisoning
        4. Infertility
        5. Exposure to mutagens
        6. Abnormal newborn screening
        7. Infectious diseases
        8. Advanced maternal age
        9. Pure ecological diseases
        10. Young paternal age
    113. The following statements regarding genetic counselling in X-linked recessive disorders are true:
        1. A healthy female with a healthy husband and a heterozygote daughter is 100% heterozygote
        2. An affected mother has a 25% risk of affected sons
        3. An affected mother has a 75% risk of affected sons
        4. An affected mother has a 100% risk for affected sons
        5. A healthy couple with an affected son has a 0% risk of an affected daughter
        6. A healthy couple with an affected son has a 50% risk of another affected daughter
        7. A healthy couple with an affected son has a 50% risk of another affected son
        8. A healthy couple with an affected son has a 25% risk of another affected son
        9. A healthy female with a healthy husband and a heterozygote daughter is 50% heterozygote
        10. A healthy couple with an affected son has a 25% risk of an affected child
    114. The following statements regarding genetic counselling for Down syndrome are true:
        1. If the mother carries a robertsonian translocation between non-homologous chromosomes (21/22) the risk of trisomy 21 in the children is 100%
        2. If the mother carries a Robertsonian translocation between non-homologous chromosomes (21/22) the risk of trisomy 21 in the children is 10%
        3. If the father carries a robertsonian translocation between non-homologous chromosomes (15/21) the risk of trisomy 21 in the children is 1%
        4. The parents who have a child with free homogeneous 21 trisomy have a high recurrence risk (75%)
        5. If the mother carries a reciprocal translocation between non-homologous chromosomes (11/21) the risk of trisomy 21 in the children is 100%
        6. The parents who have a child with free homogeneous 21 trisomy have a low recurrence risk (depending on maternal age)
        7. If the father carries a robertsonian translocation between non-homologous chromosomes (21/22) the risk of trisomy 21 in the children is 25%
        8. Parents who have a child with free mosaic 21 trisomy have a 10% recurrence risk
        9. If the mother carries a robertsonian translocation between non-homologous chromosomes (15/21) the risk of trisomy 21 in the children is 10%
        10. If the father carries a Robertsonian translocation between non-homologous chromosomes (21/22) the risk of trisomy 21 in the children is 1%
    115. Genetic counselling for Down syndrome is characterized by:
        1. If the mother carries a robertsonian translocation between homologous chromosomes (21/21) the risk of trisomy 21 in the children is 100%.
        2. Parents who have a child with mosaic trisomy 21 have a recurrence risk of less than 0.1%
        3. If the mother carries a robertsonian translocation between non-homologous chromosomes (21/D) the risk of trisomy 21 in the children is 10%.
        4. If the parents of a child with trisomy 21 by Robertsonian translocation have a normal karyotype, then the recurrence risk is less than 1%.
        5. If the mother carries a robertsonian translocation between non-homologous chromosomes (21/D) the risk of trisomy 21 in the children is 100%.
        6. If the father carries a robertsonian translocation between non-homologous chromosomes (21/D) the risk of trisomy 21 in the children is 100%.
        7. A couple with a child with free homogeneous trisomy 21 has a recurrence risk of 1% at maternal age 40
        8. A couple with a child with free homogeneous trisomy 21 has a recurrence risk of 100% at maternal age 40
        9. If the mother carries a robertsonian translocation between homologous chromosomes (21/21) the risk of trisomy 21 in the children is 10%.
        10. If the father carries a robertsonian translocation between non-homologous chromosomes (21/D) the risk of trisomy 21 in the children is 30%.
    116. The following couples have a 50% risk of an abnormal child :
        1. A couple in which one parent is an affected homozygote (aa) and the other is heterozygote (Na) – autosomal recessive disease
        2. Two heterozygous healthy parents – autosomal recessive disease
        3. A couple in which the father is affected and the mother is healthy – X-linked dominant disease
        4. A couple in which the mother is an affected heterozygote and the father is healthy – X-linked dominant disease
        5. The mother is affected by a mitochondrial disorder
        6. A couple in which the father is affected and the mother is heterozygote – X-linked recessive disease
        7. Two heterozygous affected parents – autosomal dominant disease
        8. A couple in which one parent is an affected heterozygote (An) and the other is healthy – autosomal dominant disease
        9. Both parents are affected by an autosomal recessive disease
        10. The father has AA genotype (homozygote – autosomal dominant disorder), the mother is healthy
    117. The following statements regarding genetic counselling in autosomal recessive diseases are true:
        1. Two affected parents (aa) have a 100% risk of having an affected offspring
        2. Transmission of the disease in the family is continuous
        3. A couple in which one parent is affected (aa) and the other parent is healthy (Na) has a risk of 100% of having an affected offspring
        4. Two healthy carrier parents (Na) have a 0% risk of having an affected offspring
        5. A couple in which one parent is affected (aa) and the other healthy parent is a first-degree cousin (their mothers are sisters and all the other family members are healthy) has a 1/2 risk of having an affected offspring
        6. A couple in which one parent is affected (aa) and the other healthy heterozygote (Na) has a 1/2 risk of having an affected offspring
        7. A couple in which one parent is affected (aa) and the other healthy parent is a first-degree cousin (their mothers are sisters and all the other family members are healthy) has a 1/8 risk of having an affected offspring
        8. Transmission of the disease in the family is not continuous
        9. Two affected parents (aa) have a 3/4 risk of having an affected offspring
        10. Two healthy carrier parents (Na) have a 1/4 risk of having an affected offspring
    118. The risk of recurrence of a multifactorial disease increases in the following situations:
        1. First-degree relatives affected
        2. No consanguinity
        3. Affected persons belong to the sex that is usually spared
        4. There are severe forms of the disease in the family
        5. There are consanguineous marriages
        6. There is only one case of the disease in the family
        7. There are mild forms of the disease in the family
        8. There are more cases of the disease in the family
        9. Fourth-degree relatives affected
        10. Affected persons do not belong to the sex that is usually spared
    119. The genetic risk categories are:
        1. Moderate risk – 5-10%
        2. Very low risk - 10-20%
        3. Moderate risk - 0-53%
        4. High risk – 25%
        5. Very high risk - 50-75%
        6. Low risk - 3%
        7. Total risk - 100%
        8. Neglectable risk - 5-10%
        9. Moderate risk- 50-75%
        10. Very high risk – 10-20%
    120. The risk to be heterozygote (Na) for relatives of an affected individual (aa) in an autosomal recessive disease is (no other affected persons in the family):
        1. First-degree cousins - 1/4
        2. Grandparents, uncles, aunts, grandchildren - 1/3
        3. Parents, children - 1/2
        4. Children of first-degree cousins - 1/4
        5. Children of first-degree cousins (married to healthy partner from the general population)- 1/8
        6. Brother or sister - 2/3
        7. Parents, children - 1
        8. Brother or sister - 2/4
        9. First-degree cousins - 1/6
        10. Grandparents, uncles, aunts, grandchildren - 1/2