Genetic Diseases and Pediatric Diseases Que &Answ
1. Is congenital syphilis hereditary: No
2. Is Huntington disease congenital: No
3. is a substitution of a single nucleotide base by a different base, resulting in the
replacement of one AA by another in the protein prod- uct.: Point mutation.
4. is insertion or deletion of 1 or 2 basepairs that alters the reading frame of DNA.:
Frameshift mutation.
5. is amplification of a sequence of 3 nucleotides.: Trinu- cleotide repeat mutation.
6. NEED TO KNOW:
** In a translocation is found between 2 genes to cause chronic myeloid leukemia (CML).:
Philadelphia chromosome (9;22).
7. In mendelian disorders there are mutations in a .: Single
gene.
8. Cytogenetic disorders result from .: Chromosomal aberra- tions.
9. is a phenomenon in which a single mutation may lead to numerous phenotypic
alterations.: Pleiotrophy.
10. is a phenomenon in which a single inherited disease can be the result of one of
several different mutations.: Genetic heterogeneity.
11. is a condition in which affected individuals may not have affected parents, because
their disease arose from a new mutation.: Sporadic mutation.
12. is a condition in which individuals may have a mutant gene but fail to express it.:
Incomplete penetrance.
13. is a condition in which a trait is seen in all individuals carrying the mutant gene
but is expressed differently among individuals.: Vari- able expressivity.
14.Marfan syndrome is a condition.: Autosomal dominant.
15.In Marfan syndrome there is defective formation of and this
deficiency triggers increased transformed , leading to addi- tional
phenotypic changes.: Fibrillin, growth factor.
1/
17
, Genetic Diseases and Pediatric Diseases Que &Answ
16. is an integral component of elastic fibers.: Fibrillin.
17.What are the skeletal clinical features of Marfan syndrome?: - Elongated legs, arms, and fingers
(arachnodactyly).
- Deformed chest (pectus excavatum or pigeon-breast deformity).
- High arched palate.
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17
, Genetic Diseases and Pediatric Diseases Que &Answ
- Kyphoscoliosis.
- Hyperextensibility of joints.
18.Marfan syndrome can lead to what: aneurysms and faulty heart valves
19.All Ehlers-Danlos syndromes share clinical features secondary to defec- tive formation.: Collagen.
20.What is the clinical presentation of Ehlers-Danlos syndrome in the skin?-
: Hyperextensible and extremely fragile.
(most contortionists have this)
21.What is the clinical prevention of Ehlers-Danlos syndrome in the joints?: -
Hypermobile and dislocation is common.
22.What are some serious internal complications that occur with Ehlers-Dan- los syndrome due to decreased
collagen strength?: 1. Colon rupture.
2. Large arterial rupture.
3. Ocular fragility with corneal rupture and retinal detachment.
4. Diaphragmatic hernia.
23.What is the most common of the Mendelian disorders?: Familial hypercho- lesterolemia (but most cases of
hypercholesterolemia are not genetic).
**caused by 1 of 900 different mutations.
24.In 5% of all cancers, mutations affecting certain genes are
present in all cells of the body, including germ cells.: Tumor suppressor.
25.Both Neurofibromatoses (NF1 and NF2) are classic examples of
due to an inherited mutation in tumor suppressors.: Diffuse neoplasia.
26.In NF1, there is a mutation of on chromosome 1 a tumor
7, which
suppressor.: Neurofibromin.
is
**50:50 hereditary vs. sporadic mutation, variable expressivity.
3/
17
1. Is congenital syphilis hereditary: No
2. Is Huntington disease congenital: No
3. is a substitution of a single nucleotide base by a different base, resulting in the
replacement of one AA by another in the protein prod- uct.: Point mutation.
4. is insertion or deletion of 1 or 2 basepairs that alters the reading frame of DNA.:
Frameshift mutation.
5. is amplification of a sequence of 3 nucleotides.: Trinu- cleotide repeat mutation.
6. NEED TO KNOW:
** In a translocation is found between 2 genes to cause chronic myeloid leukemia (CML).:
Philadelphia chromosome (9;22).
7. In mendelian disorders there are mutations in a .: Single
gene.
8. Cytogenetic disorders result from .: Chromosomal aberra- tions.
9. is a phenomenon in which a single mutation may lead to numerous phenotypic
alterations.: Pleiotrophy.
10. is a phenomenon in which a single inherited disease can be the result of one of
several different mutations.: Genetic heterogeneity.
11. is a condition in which affected individuals may not have affected parents, because
their disease arose from a new mutation.: Sporadic mutation.
12. is a condition in which individuals may have a mutant gene but fail to express it.:
Incomplete penetrance.
13. is a condition in which a trait is seen in all individuals carrying the mutant gene
but is expressed differently among individuals.: Vari- able expressivity.
14.Marfan syndrome is a condition.: Autosomal dominant.
15.In Marfan syndrome there is defective formation of and this
deficiency triggers increased transformed , leading to addi- tional
phenotypic changes.: Fibrillin, growth factor.
1/
17
, Genetic Diseases and Pediatric Diseases Que &Answ
16. is an integral component of elastic fibers.: Fibrillin.
17.What are the skeletal clinical features of Marfan syndrome?: - Elongated legs, arms, and fingers
(arachnodactyly).
- Deformed chest (pectus excavatum or pigeon-breast deformity).
- High arched palate.
2/
17
, Genetic Diseases and Pediatric Diseases Que &Answ
- Kyphoscoliosis.
- Hyperextensibility of joints.
18.Marfan syndrome can lead to what: aneurysms and faulty heart valves
19.All Ehlers-Danlos syndromes share clinical features secondary to defec- tive formation.: Collagen.
20.What is the clinical presentation of Ehlers-Danlos syndrome in the skin?-
: Hyperextensible and extremely fragile.
(most contortionists have this)
21.What is the clinical prevention of Ehlers-Danlos syndrome in the joints?: -
Hypermobile and dislocation is common.
22.What are some serious internal complications that occur with Ehlers-Dan- los syndrome due to decreased
collagen strength?: 1. Colon rupture.
2. Large arterial rupture.
3. Ocular fragility with corneal rupture and retinal detachment.
4. Diaphragmatic hernia.
23.What is the most common of the Mendelian disorders?: Familial hypercho- lesterolemia (but most cases of
hypercholesterolemia are not genetic).
**caused by 1 of 900 different mutations.
24.In 5% of all cancers, mutations affecting certain genes are
present in all cells of the body, including germ cells.: Tumor suppressor.
25.Both Neurofibromatoses (NF1 and NF2) are classic examples of
due to an inherited mutation in tumor suppressors.: Diffuse neoplasia.
26.In NF1, there is a mutation of on chromosome 1 a tumor
7, which
suppressor.: Neurofibromin.
is
**50:50 hereditary vs. sporadic mutation, variable expressivity.
3/
17
