30 Questions
In autosomal dominant disorders, if two heterozygous individuals have a child, what is the probability that the child will be homozygous dominant?
0%
Which statement is true regarding the inheritance of autosomal dominant disorders?
One of the parents of a child with the disorder will also have the disorder.
What is the chance that a child born to parents who are carriers of an autosomal recessive disease will be homozygous recessive for the disease?
25%
What characterizes autosomal recessive inheritance?
Diseases only occur if two genes for the disease are present.
'Heterozygous' in the context of autosomal dominant disorders means:
Carrying one gene causing the disease.
'Homozygous recessive' in autosomal recessive diseases refers to an individual who:
Has two unhealthy genes.
What is the purpose of documenting the family's ethnic background in genetic disorders assessment?
To determine if environmental conditions could account for a condition
What should be carefully inspected in newborns during genetic disorders assessment?
Number of fingers and toes
When is a physical assessment needed in genetic disorders assessment?
For any family member with a disorder, child's siblings, and the couple seeking counseling
What is the purpose of karyotyping in diagnostic testing for genetic disorders?
To identify the size, shape, and stain of chromosomes
Why is it important to inspect certain body areas like the space between the eyes during genetic disorders assessment?
To identify potential chromosomal disorders through physical characteristics
What is the significance of infants born less than 35 weeks' gestation in genetic disorders assessment?
They need extremely close assessment if parents have other children with chromosomal disorders
In X-Linked Recessive Inheritance, why do only males in the family have the disorder?
Males inherit the gene from both parents, leading to manifestation of the disorder.
Why do sons of an affected man remain unaffected in X-Linked Recessive Inheritance?
They receive a normal X chromosome from their father, compensating for the affected one from their mother.
What is a characteristic feature of X-Linked Dominant Inheritance?
All female children of affected men are affected.
Why does the X-Linked Recessive Inheritance disorder lead to a history of girls dying at birth for unknown reasons?
Female children inherit one normal X chromosome and one affected X chromosome.
Why do the parents of children with X-Linked Recessive Inheritance disorders not have the disorders themselves?
The parents are carriers and do not manifest symptoms.
What makes X-Linked Dominant Inheritance different from X-Linked Recessive Inheritance?
X-Linked Dominant appears in every generation, while X-Linked Recessive skips generations.
What is the result of chromosomal abnormalities due to nondisjunction during cell division?
One new sperm cell or ovum has 24 chromosomes and the other has 22.
How does imprinting contribute to identifying chromosomal material from parents?
It involves the selective expression of genetic material inherited from only one parent.
Which statement best describes multifactorial (polygenic) inheritance?
It involves combinations of multiple genes along with environmental factors.
Why is it stated that 45 chromosomes are not compatible with life?
It results in an abnormal number of chromosomes that is not viable for survival.
How do chromosomal abnormalities manifest if one spermatozoa or ovum has 24 chromosomes?
If it fuses with a normal spermatozoa or ovum, the zygote will have either 47 or 45 chromosomes.
What characterizes Fragile X syndrome among the listed disorders?
Fragile X syndrome is a cognitive challenge syndrome involving learning and behavioral difficulties.
What is the peak timing for Alpha-fetoprotein (AFP) in maternal serum during pregnancy?
Between the 13th and 32nd week of pregnancy
What is a common reason for false positives in Maternal Serum Screening Alpha-fetoprotein (AFP)?
Inaccurate documentation of the date of conception
At what week of pregnancy can Chorionic Villi Sampling be typically performed?
Week 5
What is the purpose of Rh immune globulin administration after Chorionic Villi Sampling for women with Rh-negative blood type?
To guard against isoimmunization in the fetus
Why should cells be removed separately from each placenta in cases of twin or multiple pregnancies during Chorionic Villi Sampling?
To ensure accurate karyotyping and DNA analysis
At what time during pregnancy is Amniocentesis typically performed?
14th - 16th week
Test your knowledge on the inheritance patterns of autosomal dominant disorders. Understand the likelihood of passing on the disorder based on different genetic scenarios and the concept of heterozygous and homozygous dominant genotypes.
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