answer this qcm about genetics:     31. The following statements about osteogenesis imperfecta are true:
        1. Osteogenesis imperfecta is manifested by multiple fractures due to minimal trauma
        2. Osteogenesis imperfecta is characterized by subluxation of the lens and dilation of the aorta
        3. Osteogenesis imperfecta is caused by mutations in the fibrillin gene FBN1
        4. Osteogenesis imperfecta is characterized by cataracts and signs of liver failure
        5. Osteogenesis imperfecta is an autosomal dominant disorder
        6. A heterozygote has a 50% risk to transmit the mutation to the offspring
        7. Manifestations may include blue sclera and deafness
        8. Osteogenesis imperfecta is generated by changes in collagen
        9. Treatment consists of reducing the dietary intake of phenylalanine
        10. Osteogenesis imperfecta is characterized by sickle cells on the peripheral blood smear
    32. The following manifestations are present in some forms of osteogenesis imperfecta:
        1. Gynaecomastia
        2. Blue scleras
        3. Deafness
        4. Dentinogenesis imperfecta (grey teeth)
        5. Hypergonadotropic hypogonadism
        6. Bone deformities
        7. Minor trauma fractures
        8. Sterility due to the absence of vas deferens
        9. Meconium ileus
        10. Peno-orchitic dissociation
    33. The following statements about osteogenesis imperfecta are true:
        1. Osteogenesis imperfecta is generated by changes in collagen
        2. Treatment includes mineralocorticoids
        3. Treatment includes androgens in childhood
        4. A person with genotype An has a 25% risk of transmitting the mutation to the offspring
        5. Symptomatic treatment may consist of assistive tools such as braces
        6. Treatment includes bisphosphonates, drug compounds that decrease bone resorption
        7. The disease is X-linked recessive
        8. Two affected parents (both heterozygotes) have a 25% chance of having a healthy child
        9. Treatment includes reducing dietary phenylalanine
        10. A person with genotype An has a 50% risk of transmitting the mutant gene to offspring
    34. The following statements about achondroplasia are true:
        1. From a pathogenic point of view, achondroplasia represents a form of congenital disruption
        2. Achondroplasia is associated with the reciprocal translocation between chromosomes 9 and 22
        3. Achondroplasia is produced by chromosomal anomalies
        4. Achondroplasia is an autosomal dominant disease
        5. Manifestations include very short stature, disproportionate, proximal segment shortened
        6. Achondroplasia is caused by a mutation of the fibroblast growth factor receptor type 3 (FGFR3) gene
        7. An affected person has a 25% risk of transmitting the disease to offspring
        8. A couple with both people affected by achondroplasia (heterozygotes) can have healthy children
        9. Achondroplasia is produced by teratogenic factors (e.g. ethyl alcohol)
        10. An affected person has a 50% risk of transmitting the disease to offspring
    35. The following statements about achondroplasia are true:
        1. Manifestations may include macrocephaly (large head)
        2. Manifestations include streak ovaries
        3. The disease is autosomal dominant
        4. A couple with an affected father (heterozygote) and a healthy mother has a 100% risk of having an affected daughter
        5. A couple with both parents affected by achondroplasia (heterozygotes) can have healthy daughters
        6. A couple with an affected father (heterozygote) and a healthy mother has a 50% risk of having an affected son
        7. Manifestations include very short stature with rhizomelic limb shortening
        8. Manifestations include meconium ileus
        9. A couple with both parents affected by achondroplasia (heterozygotes) can not have healthy children
        10. Manifestations include peno-orchitic dissociation
    36. Two parents with achondroplasia (both parents are affected) have a healthy girl. The following statements are correct:
        1. The couple has a 25% chance of having healthy children
        2. Mother has genotype XA Xn
        3. The couple has a 75% chance of having a healthy baby boy
        4. The risk (of the couple) of having heterozygous children is 50%.
        5. Father has genotype Xa Y
        6. Parents are heterozygotes
        7. The disease is caused by a mutation of a gene located on the X chromosome
        8. The healthy girl has genotype aa
        9. The healthy girl has genotype nn
        10. The disease is autosomal dominant
    37. A man with recurrent respiratory infections, maldigestion, and poor weight gain has two identical alleles with ΔF508 mutation in the CFTR gene. The following statements are correct:
        1. The patient’s parents, though healthy, have a 75% risk of children with the same condition
        2. The patient can have healthy offspring (if fertile) if the partner does not suffer from the same disease
        3. The man may suffer from infertility due to bilateral congenital absence of vas deferens
        4. Treatment consists of dietary restriction of phenylalanine
        5. The patient has a 25% chance of transmitting an allele with the ΔF508 mutation to offspring (if fertile)
        6. Treatment consists of postpubertal estrogen administration
        7. The patient suffers from cystic fibrosis
        8. The patient suffers from osteogenesis imperfecta
        9. The patient will transmit an allele with the ΔF508 mutation to all offspring (if fertile)
        10. The man is homozygote
    38. The following statements about familial hypercholesterolemia (FH) are true:
        1. The disease is autosomal dominant
        2. Clinical diagnosis is suggested by the detection of spina bifida
        3. FH is characterized by increased serum cholesterol levels
        4. FH is characterized by increased serum phenylalanine levels
        5. Coronary atherosclerosis leads to heart attacks at an early age (30ties), in patients with FH
        6. Intellectual disability is one of the major features
        7. Clinical diagnosis is suggested by the detection of xanthomas (cholesterol deposits on the skin and tendons)
        8. FH is associated with the reciprocal translocation between chromosomes 9 and 22
        9. FH is caused by mutations in the LDL (Low-Density Lipoprotein) receptor gene
        10. The disease is autosomal recessive
    39. The following statements about persons with genotype XA Xn are correct :
        1. They can inherit the abnormal gene from one of the parents
        2. They have a 50% risk of transmitting the abnormal gene to offspring
        3. If they marry an affected person they have a 100% risk of affected children
        4. They have a 75% risk of transmitting the abnormal gene to their offspring
        5. They are affected
        6. They are heterozygotes
        7. They are healthy carriers
        8. If they marry a healthy person they can not have affected children
        9. If they marry a person with genotype XA Y they may have healthy children
        10. They are hemizygotes
    40. A man with Becker muscular dystrophy marries a healthy woman (Maria) who has a brother with the same condition (Maria's parents are healthy). Which of the following statements are true:
        1. Maria's father (healthy) has genotype XN Y
        2. Maria's genotype is XN Xa
        3. The disease is recessive
        4. Maria's father (healthy) has genotype Na
        5. Maria's mother has genotype An
        6. The affected man (Maria's husband) has genotype Xa Y
        7. Couple's risk of having an affected child is 50%
        8. The couple’s risk of having an affected child is 25%
        9. Maria's brother has genotype Xa Xa
        10. Maria's genotype is ½ XN X a
    41. A healthy couple has an affected daughter (Maria) and a healthy son (John). John marries Elena, an affected woman (same condition as Maria). The following statements are true:
        1. Maria's mother is heterozygote
        2. The disease is autosomal recessive
        3. The risk of the couple John and Elena of having an affected child is 1/3
        4. Maria has genotype Xa Xa
        5. John and Elena's risk of having an affected child is 25%.
        6. John has genotype Xn Y
        7. The disease is X-linked dominant
        8. Maria has a 50% risk of transmitting the abnormal gene to her offspring
        9. Elena has genotype aa
        10. Maria's father (healthy) has genotype Na
    42. John and Maria are first-degree cousins. Their common grandmother suffered from cystic fibrosis, although her parents were healthy. The rest of the family members are healthy. The following statements are true:
        1. Maria has genotype Xa Xa
        2. The disease is X-linked dominant
        3. John and Maria have a 50% risk of having affected daughters
        4. The common grandmother had genotype aa
        5. John has genotype Xn Y
        6. The risk of the couple John and Mary having an affected child is 1/16
        7. Consanguineous marriage increases the couple's (John and Maria) risk of having children with cystic fibrosis
        8. The risk of the couple John and Maria having an affected child is 25%.
        9. John has a 50% risk of carrying the abnormal gene
        10. The disease is autosomal recessive
    43. John has a monogenic X-linked dominant disorder. He marries Maria, his healthy first-degree cousin. The following statements are true:
        1. Maria has genotype Xa Xa
        2. John is hemizygote
        3. John and Maria have a 100% chance of having healthy boys
        4. John can not transmit the abnormal gene to his sons
        5. Maria has genotype Xn Xn
        6. Maria is heterozygote
        7. John and Maria have a 100% risk of having affected daughters
        8. The risk of the couple John and Maria having an affected child is 25%.
        9. John has genotype Xn Y
        10. Maria has a 50% risk of transmitting the abnormal gene to her offspring
    44. The following anomalies are characterized by female gonadal dysgenesis:
        1. 46,X,i(Yq);
        2. 46,X,del(Yq);
        3. 46,XX;
        4. 46,X,del(Xp);
        5. 46,X,r(X);
        6. 45,X;
        7. 46,X,del(Xq);
        8. 48,XXXY;
        9. 47,XXY;
        10. 45,X/46,XX;
    45. 46,XX male syndrome is characterized by:
        1. XX males are fertile (DAZ gene is present)
        2. Gonads - ovaries
        3. XX males are sterile (Yq is absent)
        4. The karyotype is 46,XY;
        5. Wolffian ducts will undergo apoptosis
        6. The error occurs in maternal meiosis
        7. Mullerian ducts will undergo apoptosis (mullerian inhibitory substance is present)
        8. Gonads - testes
        9. The most common abnormality is the translocation of the SRY gene from the Y chromosome to the X chromosome in paternal meiosis;
        10. Wolffian ducts will undergo differentiation into male structures (the testosterone from the Leydig cells)
    46. Which of the following processes are involved in normal human sexual development:
        1. Sexual differentiation of the central nervous system (behavioral sexual development);
        2. Androgen receptor gene mutations
        3. Marriage
        4. Differentiation of internal genitalia
        5. Achievement of genetic sex
        6. Differentiation of external genitalia
        7. Intrachromosomal recombination
        8. Collagen gene transcription
        9. Differentiation of gonads
        10. Formation of polyribosomes
    47. Sexual determinism implies:
        1. Starts from the moment of fertilization
        2. Sexual differentiation
        3. The oocyte carrying an X chromosome is fertilized by a sperm carrying a Y chromosome (male zygote)
        4. Differentiation of internal genitalia
        5. Achievement of secondary sexual features
        6. Gonadal differentiation
        7. Sexual differentiation of the central nervous system (behavioral sexual development);
        8. Differentiation of external genitalia
        9. Achievement of genetic sex
        10. The oocyte carrying an X chromosome is fertilized by a sperm carrying an X chromosome (female zygote)
    48. Sexual differentiation implies:
        1. Achievement of the phenotypical and behavioral sex
        2. Gonadal differentiation
        3. Achievement of genetic sex
        4. Starts from the moment of fertilization
        5. Sexual differentiation of the central nervous system (behavioral sexual development);
        6. The oocyte carrying an X chromosome is fertilized by a sperm carrying a Y chromosome (male zygote)
        7. Differentiation of external genitalia
        8. The oocyte carrying an X chromosome is fertilized by a sperm carrying an X chromosome (female zygote)
        9. Achievement of secondary sexual features
        10. Differentiation of internal genitalia
    49. Sexual determinism and sexual differentiation in a male organism involve:
        1. The Wolffian duct is destroyed spontaneously
        2. Testosterone acts on the Wolffian duct → will undergo differentiation into male internal genitalia;
        3. The bipotential gonad changes into an ovary
        4. The fetal testicle produces testosterone and antimullerian hormone;
        5. Testosterone changes into dihydrotestosterone that acts on a receptor on the urogenital sinus and transforms it into male structures
        6. SRY (gene located on the Y chromosome) acts on the bipotential gonad at a specific moment and transforms it into a testicle
        7. The antimullerian hormone acts on the Mullerian duct and destroys it
        8. The urogenital sinus changes spontaneously into female external genitalia
        9. Absence of SRY genes
        10. Mullerian duct changes spontaneously into female internal genitalia
    50. Sexual determinism and sexual differentiation in a female organism involve:
        1. The antimullerian hormone acts on the Mullerian duct and destroys it
        2. Absence of SRY genes
        3. The fetal testicle produces testosterone and antimullerian hormone;
        4. Testosterone acts on the Wolffian duct → will undergo differentiation into male internal genitalia;
        5. The Wolffian duct is destroyed spontaneously
        6. SRY (gene located on the Y chromosome) acts on the bipotential gonad at a specific moment and transforms it into a testicle
        7. The bipotential gonad changes into the ovary
        8. Mullerian duct changes spontaneously into female internal genitalia
        9. Testosterone changes into dihydrotestosterone that acts on a receptor on the urogenital sinus and transforms it into male structures
        10. The urogenital sinus changes spontaneously into female external genitalia