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Questions and Answers
What is the cause of Turner syndrome?
What is the cause of Turner syndrome?
In Turner syndrome, what is the result of classical monosomy X (45,X)?
In Turner syndrome, what is the result of classical monosomy X (45,X)?
What is the main cause of mosaic Turner syndrome (45X/46XX or 45X/46XY)?
What is the main cause of mosaic Turner syndrome (45X/46XX or 45X/46XY)?
Which cells express X chromosome from the mother and which from the father in female mosaics?
Which cells express X chromosome from the mother and which from the father in female mosaics?
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Which genetic condition is associated with incomplete X-inactivation, leading to up to 25% of X chromosome genes escaping inactivation?
Which genetic condition is associated with incomplete X-inactivation, leading to up to 25% of X chromosome genes escaping inactivation?
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In which genetic condition can tetragametic chimerism lead to implications for paternity testing and genetic inheritance?
In which genetic condition can tetragametic chimerism lead to implications for paternity testing and genetic inheritance?
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Which genetic condition involves an individual with two or more populations of cells with different genotypes that arose from a single fertilized egg?
Which genetic condition involves an individual with two or more populations of cells with different genotypes that arose from a single fertilized egg?
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Which genetic phenomenon involves the switching on or off of specific alleles, with implications for gene expression and disease development?
Which genetic phenomenon involves the switching on or off of specific alleles, with implications for gene expression and disease development?
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Which genetic condition is associated with IGF2 gene imprinting important for regulating growth during gestation and preventing cancer development?
Which genetic condition is associated with IGF2 gene imprinting important for regulating growth during gestation and preventing cancer development?
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Which genetic condition is associated with diseases related to imprinting due to uniparental disomy (UPD), mutations in the imprinting control center, or deletions/mutations of the genes on the relevant chromosome?
Which genetic condition is associated with diseases related to imprinting due to uniparental disomy (UPD), mutations in the imprinting control center, or deletions/mutations of the genes on the relevant chromosome?
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Which syndrome is associated with paternal uniparental disomy for Chromosome 15, resulting in the absence of the maternal chromosome?
Which syndrome is associated with paternal uniparental disomy for Chromosome 15, resulting in the absence of the maternal chromosome?
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Which syndrome is associated with differences in gene expression depending on the parental origin of the affected chromosome?
Which syndrome is associated with differences in gene expression depending on the parental origin of the affected chromosome?
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Which genetic condition involves addressing the impact of infertility and the transition of young people to adult care in genetic counseling?
Which genetic condition involves addressing the impact of infertility and the transition of young people to adult care in genetic counseling?
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Which genetic condition management includes screening for comorbidities such as heart problems, scoliosis, and high blood pressure, as well as hormone and infertility treatments?
Which genetic condition management includes screening for comorbidities such as heart problems, scoliosis, and high blood pressure, as well as hormone and infertility treatments?
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Which genetic condition involves karyotype analysis, cardiac function tests, and imaging tests like CT, MRI, and MRA as key investigations?
Which genetic condition involves karyotype analysis, cardiac function tests, and imaging tests like CT, MRI, and MRA as key investigations?
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Which syndrome is associated with X-inactivation that is incomplete, leading to up to 25% of X chromosome genes escaping inactivation?
Which syndrome is associated with X-inactivation that is incomplete, leading to up to 25% of X chromosome genes escaping inactivation?
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Study Notes
Chimaerism, Mosaicism, and Imprinting in Genetics
- Turner Syndrome (TS) management includes screening for comorbidities such as heart problems, scoliosis, and high blood pressure, as well as hormone and infertility treatments.
- Key investigations for TS include karyotype analysis, cardiac function tests, and imaging tests like CT, MRI, and MRA.
- Genetic counseling for TS includes addressing the impact of infertility and the transition of young people with TS to adult care.
- X-inactivation in TS is incomplete, leading to up to 25% of X chromosome genes escaping inactivation, affecting gene dosing and contributing to the female phenotype.
- A scenario involving tetragametic chimerism is described, where an individual, Mr. X, has cells with two different genomes, leading to implications for paternity testing and genetic inheritance.
- Chimaerism occurs when an individual has two or more populations of cells with different genotypes due to the fusion of more than one fertilized zygote during embryogenesis.
- Mosaicism refers to an individual with two or more populations of cells with different genotypes that arose from a single fertilized egg, which can be somatic or germline.
- Imprinting, exemplified by the case of Robert Draper, involves the switching on or off of specific alleles, with implications for gene expression and disease development.
- IGF2 gene imprinting is important for regulating growth during gestation and preventing cancer development, such as Wilms' tumor associated with loss of imprinting.
- Angelman and Prader-Willi syndromes are associated with imprinting errors, with differences in gene expression depending on the parental origin of the affected chromosome.
- Paternal uniparental disomy for Chromosome 15 results in Angelman's syndrome due to the absence of the maternal chromosome.
- Diseases related to imprinting can occur due to uniparental disomy (UPD), mutations in the imprinting control center, or deletions/mutations of the genes on the relevant chromosome.
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Description
Test your knowledge of genetic phenomena like chimaerism, mosaicism, and imprinting. Explore the management, investigations, and genetic counseling related to Turner Syndrome, as well as the implications of X-inactivation. Delve into real-life cases and their impact on gene expression, disease development, and inheritance patterns.
