p.9
Monogenic (Mendelian) Disorders
What type of individuals are affected by autosomal dominant disorders?
Both homozygotes and heterozygotes are affected.
p.8
Monogenic (Mendelian) Disorders
What are the types of inheritance patterns for monogenic disorders?
Autosomal dominant, autosomal recessive, and X-linked.
p.5
Prenatal Diagnostics Techniques
What is amniocentesis used for in prenatal diagnostics?
Analysis of amniotic fluid.
p.1
Terminology in Pathophysiology
What does 'congenital' mean in pathophysiology?
Present at birth (not always genetically determined, e.g., congenital syphilis, toxoplasmosis).
p.17
Chromosomal Aberrations and Their Impact
How many sets of chromosomes do humans have?
2 sets of 23 chromosomes.
p.4
Classification of Genetic Diseases
What type of mutations serve as a reservoir for genetic diseases?
Only mutations that are not lethal.
p.20
Chromosomal Aberrations and Their Impact
Which is generally more dangerous: loss or gain of chromosomal material?
Loss of chromosomal material is more dangerous than gain.
p.12
Monogenic (Mendelian) Disorders
In what type of marriages is there a high probability of autosomal recessive disorders?
Consanguineous marriages.
p.9
Monogenic (Mendelian) Disorders
Are autosomal dominant disorders usually inherited from one or both parents?
Usually inherited from one parent (heterozygotes).
p.15
Specific Genetic Disorders: Examples and Implications
Is there a known cure for Tay-Sachs disease?
No, there is no known cure for Tay-Sachs disease.
p.23
Chromosomal Aberrations and Their Impact
What happens to one of the X chromosomes in females?
One of the X chromosomes is inactivated.
p.5
Prenatal Diagnostics Techniques
Which prenatal diagnostic technique involves analyzing the biochemical activity of various enzymes?
Biochemical activity analysis (e.g., for Tay-Sachs disease).
p.17
Chromosomal Aberrations and Their Impact
Which types of chromosomes can be affected by chromosomal aberrations?
Autosomes or sex chromosomes.
p.25
Specific Genetic Disorders: Examples and Implications
What are streak ovaries and what symptoms do they cause in Turner syndrome?
Streak ovaries lead to infertility, amenorrhea, infantile genitalia, and little pubic hair
p.13
Specific Genetic Disorders: Examples and Implications
How does rising phenylalanine (Phe) levels affect brain development in PKU?
It impairs brain development.
p.10
Monogenic (Mendelian) Disorders
What is the most frequent Mendelian disorder?
Familial hypercholesterolemia.
p.21
Specific Genetic Disorders: Examples and Implications
How does maternal age influence the incidence of Down syndrome?
The incidence increases with maternal age: <20 years old, 1 in 1550 live births; >45 years old, 1 in 25 live births.
p.20
Chromosomal Aberrations and Their Impact
Are abnormalities of sex chromosomes or autosomal chromosomes better tolerated?
Abnormalities of sex chromosomes are better tolerated than autosomal chromosomes.
p.17
Chromosomal Aberrations and Their Impact
How many pairs of autosomes and sex chromosomes do humans have?
22 pairs of autosomes and 2 sex chromosomes.
p.12
Monogenic (Mendelian) Disorders
What percentage of descendants are affected by autosomal recessive disorders?
25% of descendants are affected.
p.22
Genetic Diseases in Pediatrics
What increased health risk is associated with the clinical symptoms?
Increased risk of acute leukemia (白血病)
p.18
Chromosomal Aberrations and Their Impact
What is monosomy?
Monosomy is the condition of having one less chromosome (2n-1).
p.7
Multifactorial Inheritance Disorders
What characterizes disorders with multifactorial inheritance?
They are influenced by multiple genes and environmental factors.
p.23
Chromosomal Aberrations and Their Impact
What range of karyotypes is compatible with survival in sex chromosomal disorders?
From 45(X0) to 49(XXXXY).
p.8
Monogenic (Mendelian) Disorders
What is a monogenic (Mendelian) disorder?
A disorder caused by the mutation of a single gene, following Mendelian inheritance patterns.
p.15
Specific Genetic Disorders: Examples and Implications
What are the main symptoms of Tay-Sachs disease?
Mental retardation and blindness.
p.11
Specific Genetic Disorders: Examples and Implications
What are the main symptoms of Ehlers-Danlos syndrome?
Hyperextensibility of skin and hypermobility of joints.
p.26
Specific Genetic Disorders: Examples and Implications
What are common symptoms of Turner Syndrome?
Common symptoms include short stature, delayed puberty, infertility, heart defects, and certain learning disabilities.
p.14
Specific Genetic Disorders: Examples and Implications
What eye condition is associated with galactosemia?
Opacification leading to cataracts.
p.16
Monogenic (Mendelian) Disorders
What is the probability of sons being diseased or healthy if the mother is heterozygous for an X-linked disease?
50% diseased, 50% healthy.
p.18
Chromosomal Aberrations and Their Impact
Are sex chromosomal abnormalities compatible with life?
Yes, sex chromosomal abnormalities are compatible with life, as seen in Turner’s syndrome.
p.9
Monogenic (Mendelian) Disorders
How are autosomal dominant disorders transmitted?
Transmission occurs from one generation to the other.
p.17
Chromosomal Aberrations and Their Impact
What are chromosomal aberrations?
Alterations in the number or structure of chromosomes.
p.12
Monogenic (Mendelian) Disorders
Who is affected in autosomal recessive disorders?
Only homozygotes are affected; heterozygotes (parents) are only carriers.
p.22
Terminology in Pathophysiology
What condition of the skeletal muscles is described in the clinical symptoms?
Skeletal muscle hypotonia
p.16
Monogenic (Mendelian) Disorders
What is the status of sons and daughters of a father with an X-linked disease?
Sons are healthy, all daughters are carriers.
p.24
Specific Genetic Disorders: Examples and Implications
What are some clinical manifestations of Klinefelter syndrome?
Wide range of clinical manifestations including distinctive body build, reduced body and facial hair, gynecomastia, and testicular atrophy.
p.21
Specific Genetic Disorders: Examples and Implications
Do parents of children with Down syndrome typically have a normal karyotype?
Yes, parents usually have a normal karyotype.
p.10
Monogenic (Mendelian) Disorders
What percentage of plasma cholesterol is affected by the LDL receptor?
70% of plasma cholesterol.
p.9
Monogenic (Mendelian) Disorders
Which genders are affected by autosomal dominant disorders?
Both males and females are affected.
p.11
Monogenic (Mendelian) Disorders
What are the inheritance patterns of Ehlers-Danlos syndrome?
Both autosomal dominant and recessive.
p.20
Chromosomal Aberrations and Their Impact
What is the usual origin of chromosomal abnormalities?
Usually de novo, meaning both parents and siblings are normal.
p.21
Specific Genetic Disorders: Examples and Implications
What is the most frequent autosomal disorder?
Trisomy 21 (Down syndrome).
p.10
Monogenic (Mendelian) Disorders
What are the symptoms of familial hypercholesterolemia in heterozygotes?
Asymptomatic until adulthood, xanthomas along tendon sheets, coronary atherosclerosis.
p.15
Specific Genetic Disorders: Examples and Implications
What is Tay-Sachs disease?
A gangliosidosis where gangliosides accumulate in the brain's nerve cells, leading to premature cell death.
p.1
Terminology in Pathophysiology
Are all genetic diseases congenital?
No, for example, Huntington disease manifests in the 3rd to 4th decade of life.
p.26
Specific Genetic Disorders: Examples and Implications
What is Turner Syndrome?
Turner Syndrome is a chromosomal disorder where a female is partly or completely missing an X chromosome.
p.16
Monogenic (Mendelian) Disorders
What is the probability of daughters being carriers or healthy if the mother is heterozygous for an X-linked disease?
50% carriers, 50% healthy.
p.13
Specific Genetic Disorders: Examples and Implications
What are the consequences of PKU after 6 months if untreated?
Severe mental retardation and an IQ under 50.
p.6
Classification of Genetic Diseases
What are the three groups of genetic diseases?
1. Disorders with multifactorial inheritance (polygenic) 2. Monogenic (Mendelian) disorders 3. Chromosomal aberrations
p.11
Specific Genetic Disorders: Examples and Implications
What is Ehlers-Danlos syndrome?
A genetic defect of collagen fibers.
p.20
Chromosomal Aberrations and Their Impact
Can chromosomal abnormalities sometimes be symptomatic in adult age?
Yes, for example, infertility.
p.14
Specific Genetic Disorders: Examples and Implications
What is galactosemia?
A defect of galactose metabolism.
p.26
Specific Genetic Disorders: Examples and Implications
What is the typical chromosomal pattern in Turner Syndrome?
The typical chromosomal pattern in Turner Syndrome is 45,X, meaning there is only one X chromosome instead of two sex chromosomes.
p.2
Prematurity and Associated Risks
What is the morbidity and mortality rate comparison between premature and full-term babies?
Premature babies have higher morbidity and mortality than full-term babies.
p.13
Specific Genetic Disorders: Examples and Implications
What enzyme is absent in Phenylketonuria (PKU)?
Phenylalanine-hydroxylase.
p.10
Monogenic (Mendelian) Disorders
Which gene mutation is associated with familial hypercholesterolemia?
Mutation of the gene encoding the LDL receptor.
p.7
Multifactorial Inheritance Disorders
Name some disorders that have multifactorial inheritance.
Diabetes mellitus, hypertension, gout, schizophrenia, and some types of cancer (ovarian, breast, colon).
p.6
Multifactorial Inheritance Disorders
What type of inheritance is associated with polygenic disorders?
Multifactorial inheritance
p.1
Terminology in Pathophysiology
What does 'familial' mean in pathophysiology?
Transmitted in the gametes through generations.
p.5
Prenatal Diagnostics Techniques
How can the sex of the fetus be determined in prenatal diagnostics?
By analyzing for X-linked disorders such as hemophilia.
p.11
Specific Genetic Disorders: Examples and Implications
What complications can arise from Ehlers-Danlos syndrome?
Joint dislocations, rupture of large vessels, colon, and cornea.
p.26
Specific Genetic Disorders: Examples and Implications
How is Turner Syndrome diagnosed?
Turner Syndrome is diagnosed through a karyotype test, which analyzes the chromosomal composition of an individual.
p.14
Specific Genetic Disorders: Examples and Implications
What liver conditions can result from galactosemia?
Hepatomegaly, fatty change, fibrosis, and cirrhosis.
p.24
Specific Genetic Disorders: Examples and Implications
What is Klinefelter syndrome?
A genetic condition where a male has an extra X chromosome (47, XXY).
p.18
Chromosomal Aberrations and Their Impact
What is polyploidy and its consequence?
Polyploidy is the condition of having more than two sets of chromosomes (3n or 4n), and it often results in spontaneous abortion.
p.13
Specific Genetic Disorders: Examples and Implications
What physical characteristic is affected by the absence of Tyrosine in PKU?
Decreased pigmentation of hair and skin.
p.18
Chromosomal Aberrations and Their Impact
What is trisomy and is it compatible with life?
Trisomy is the condition of having an extra chromosome (2n+1), and it is compatible with life.
p.24
Specific Genetic Disorders: Examples and Implications
What reproductive issues are associated with Klinefelter syndrome?
Impaired spermatogenesis and sterility.
p.25
Specific Genetic Disorders: Examples and Implications
What type of hypogonadism is associated with Turner syndrome?
Primary hypogonadism in phenotypic females
p.3
Congenital Malformations and Their Etiology
What are the possible etiologies of congenital malformations?
Genetic or environmental factors.
p.2
Prematurity and Associated Risks
What syndrome is characterized by a decrease in surfactant synthesis in premature infants?
Infant respiratory distress syndrome.
p.24
Specific Genetic Disorders: Examples and Implications
What are some physical characteristics of Klinefelter syndrome?
Reduced body and facial hair, gynecomastia, and testicular atrophy.
p.25
Specific Genetic Disorders: Examples and Implications
What are some physical characteristics of Turner syndrome?
Growth retardation, short stature, webbing of the neck, low posterior hairline, broad chest
p.14
Specific Genetic Disorders: Examples and Implications
What brain conditions can result from galactosemia?
Loss of neurons, gliosis, and edema.
p.2
Prematurity and Associated Risks
What is the incidence rate of infant respiratory distress syndrome in babies born at 32-36 weeks compared to those born before 28 weeks?
15-20% for 32-36 weeks vs. 60% for less than 28 weeks.
p.18
Chromosomal Aberrations and Their Impact
What is aneuploidy?
Aneuploidy is the presence of an abnormal number of chromosomes in a cell.
p.24
Specific Genetic Disorders: Examples and Implications
What is a distinctive body build characteristic of Klinefelter syndrome?
Increased length between soles and pubic bone.
p.3
Congenital Malformations and Their Etiology
What are congenital malformations?
Structural defects present at birth.
p.26
Specific Genetic Disorders: Examples and Implications
Can Turner Syndrome be treated?
While there is no cure for Turner Syndrome, treatments can help manage symptoms. These may include growth hormone therapy, estrogen replacement therapy, and fertility treatments.
p.13
Specific Genetic Disorders: Examples and Implications
What happens to plasmatic phenylalanine (Phe) levels in individuals with PKU?
There is an increase in plasmatic Phe levels since birth.
p.24
Specific Genetic Disorders: Examples and Implications
What are some risk factors for Klinefelter syndrome?
Advanced maternal age and history of irradiation of either parent.
p.21
Specific Genetic Disorders: Examples and Implications
Why is the ovum more frequently affected in cases of Down syndrome?
Because the ovum is under long-term influence of the environment.
p.16
Monogenic (Mendelian) Disorders
How are X-linked diseases transmitted?
By a heterozygous mother to her sons.
p.18
Chromosomal Aberrations and Their Impact
What is euploidy?
Euploidy is the condition of having a normal number of chromosomes, which is 46 (2n).
p.2
Prematurity and Associated Risks
What does SIDS stand for and what is it commonly known as?
Sudden Infant Death Syndrome, commonly known as crib death or cot death.
p.13
Specific Genetic Disorders: Examples and Implications
What are two critical management strategies for PKU?
Early screening test and a strict diet with medications.
p.18
Chromosomal Aberrations and Their Impact
Are autosomal monosomies compatible with life?
No, autosomal monosomies are incompatible with life.
p.10
Monogenic (Mendelian) Disorders
What are the symptoms of familial hypercholesterolemia in homozygotes?
Xanthomas in childhood, death due to myocardial infarction by the age of 15 years.
