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Cards (35)
What does phenotype refer to in genetics?
Outward appearance or
gene expression
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What does genotype refer to in genetics?
Actual gene composition
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What does autosomal mean in the context of genetic disorders?
Gene located on non-sex
chromosomes
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What does dominant mean in genetic inheritance?
One copy of
mutation
causes
disease
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What is the chance of a child inheriting an autosomal dominant disorder?
50%
chance, regardless of sex
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How does autosomal recessive inheritance occur?
Child inherits
mutated gene
from both
parents
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What is the chance of a child inheriting an autosomal recessive condition with manifestation?
25%
chance of manifestation
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What characterizes X-linked dominant inheritance?
Gene
responsible is on the
X chromosome
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Who is most affected by X-linked recessive inheritance?
Males, as they have one
X chromosome
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What is multifactorial inheritance?
Disorders from multiple
gene combinations
and environment
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What does imprinting refer to in genetics?
Differential expression of
genetic material
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Which syndrome is expressed only from the maternal chromosome 15?
Angelman Syndrome
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Which syndrome is expressed only from the paternal chromosome 15?
Prader-Willi Syndrome
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What are nondisjunction abnormalities?
Uneven division of
chromosomes
during
cell division
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What happens if a spermatozoon or ovum with abnormal chromosomes fuses?
Zygote
will have
47
or
45
chromosomes
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Why are 45 chromosomes not compatible with life?
It could lead to
abortion
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What is translocation in genetics?
Chromosome
breaks and attaches to another chromosome
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What are isochromosomes?
Chromosomes
divide horizontally, causing mismatched arms
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What is mosaicism in genetics?
Different cells have different
chromosome
counts
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What is the purpose of genetic counseling?
Provide information about
inheritance
and
disorders
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Who should consider genetic counseling?
Couples with a child having a
congenital disorder
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What are nursing responsibilities in genetic counseling?
Explain
procedures
and support
couples
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What is included in genetic disorders assessment history?
Information for
3
generations
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What is karyotyping?
Visualization of
chromosomal
pairing
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When is maternal serum screening done?
At the
13th
and
32nd
week of pregnancy
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What is alpha-fetoprotein?
Glycoprotein
produced by the
fetal
liver
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What is chorionic villi sampling?
Retrieval
and
analysis
of
chorionic
villi
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What is the accuracy of chorionic villi sampling?
100%
accurate result
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When is amniocentesis performed?
Done at the
14th
to
16th
week of pregnancy
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What is percutaneous umbilical blood sampling?
Withdrawal of blood from the
fetal
umbilical cord
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When is percutaneous umbilical blood sampling done?
Done at the
17th
week of
pregnancy
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What is the purpose of fetal imaging?
Identify fetal size and
structural disorders
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What is fetoscopy?
Insertion of a
fiberoptic
tube to inspect
fetus
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What is preimplantation diagnosis?
Testing before pregnancy for
genetic abnormalities
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What is the relation of preimplantation diagnosis to IVF?
Possible before IVF if
genetic history
exists
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