Genetic syndromes
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- [...] is a congenital heart defect which presents with pulmonary infundibular stenosis, an overriding aorta, a ventricular septal defect, and right ventricular hypertrophy.
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- [...] is a genetic disorder of the connective tissue caused by a mutation to the FBN-1 gene.
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- Is Marfan syndrome caused by an inherited or de novo mutation?
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- Is Marfan syndrome caused by a dominant or recessive mutation?
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- [...] is a type of short-limbed dwarfism caused by a de novo mutation to fibroblast growth factor receptor 3 (FGFR3).
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- Is achondroplasia caused by an inherited or de novo mutation?
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- Is achondroplasia caused by a dominant or recessive mutation?
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- Neurofibromatosis type 1 is an inherited disorder caused by a mutation to the [...] arm of chromosome [...] and characterized by neurofibromas and café au lait spots.
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- Is neurofibromatosis type 1 caused by an inherited or de novo mutation?
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- Is neurofibromatosis type 1 caused by a dominant or recessive mutation?
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- Achondroplasia is a type of short-limbed dwarfism caused by a de novo mutation to [...] ([...]).
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- Cardiac defects occur in [...]% of cases of Down’s syndrome.
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- [...]% of foetuses with Down’s syndrome abort spontaneously.
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- [...]% of cases of Down’s syndrome are caused by meiotic non-disjunction homologous chromosomes.
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- [...]% of cases of Down’s syndrome are caused by a Robertsonian translocation.
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- Is there a maternal or paternal age effect for Down’s syndrome?
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- [...] syndrome is caused by trisomy of chromosome 18.
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- Is there a maternal or a paternal age effect for Edward’s syndrome?
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- [...]% of babies with Edward’s syndrome die within 1 month, and [...]% within 1 year.
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- [...] syndrome is caused by trisomy of chromosome 13.
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- Is there a maternal or a paternal age effect for Patau’s syndrome?
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- [...]% of babies with Patau syndrome die within 1 month, [...]% within 1 year.
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- [...]% of foetuses with Turner’s syndrome abort spontaneously.
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- In 80% of cases of Turner's syndrome, the missing X chromosome should have come from the [...]er.
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- [...] syndrome is caused by a deletion on the p arm of chromosome 4.
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- [...] syndrome is caused by a deletion on the p arm of chromosome 5.
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- [...] syndrome is caused by a deletion on the q arm of chromosome 7.
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- [...] syndrome is caused by the absence of maternally imprinted genes on chromosome 15.
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- [...] syndrome is caused by the absence of paternally imprinted genes on chromosome 15.
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- [...] is a condition characterized by a lack of responsiveness to the hormone PTH and caused by a mutation in the imprinted GNAS gene.
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- [...] syndrome is characterized by prenatal overgrowth and cancer pre-disposition associated with mutations in an imprinted locus of the p arm of chromosome 11.
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- Silver-Russell syndrome is associated with [...]creased [...]ternal methylation on chromosome 11.
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- Silver-Russell syndrome is associated with decreased paternal methylation on chromosome [...].
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- Beckwith-Wiedemann syndrome is characterized by prenatal [...]ergrowth and cancer pre-disposition associated with mutations in an imprinted locus of the p arm of chromosome 11.
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- Beckwith-Wiedemann syndrome is characterized by prenatal overgrowth and cancer pre-disposition associated with mutations in an imprinted locus of the [...] arm of chromosome [...].
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- Albright’s hereditary osteodystrophy is a condition characterized by a lack of responsiveness to the hormone [...] and caused by a mutation in the imprinted GNAS gene.
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- Albright’s hereditary osteodystrophy is a condition characterized by a lack of responsiveness to the hormone PTH and caused by a mutation in the imprinted [...] gene.
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- Prader-Willi syndrome is caused by the absence of [...]ternally imprinted genes on chromosome 15.
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- Prader-Willi syndrome is caused by the absence of paternally imprinted genes on chromosome [...].
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- Angelman syndrome is caused by the absence of [...]ternally imprinted genes on chromosome 15.
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- Angelman syndrome is caused by the absence of maternally imprinted genes on chromosome [...].
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- William’s syndrome is caused by a deletion on the [...] arm of chromosome [...].
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- Cri du chat syndrome is caused by a deletion on the [...] arm of chromosome [...].
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- Wolf-Hirschorn syndrome is caused by a deletion on the [...] arm of chromosome [...].
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- Patau's syndrome is caused by [...]somy of chromosome [...].
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- Edward’s syndrome is caused by [...]somy of chromosome [...].
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- [...] is an inherited disorder caused by a mutation to the q arm of chromosome 17 and characterized by neurofibromas and café au lait spots.
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- [...] is caused by a defect in the methylation and expression of the FMR1 gene.
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- Fragile X syndrome is caused by a defect in the methylation and expression of the [...] gene.
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- What are the 2 most common causes of mental retardation?
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- Down's syndrome [...]creases the risk of developing Alzheimer's disease.
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- [...] syndrome increases the risk of developing Alzheimer's disease.
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- Down's syndrome increases the risk of developing [...] disease.
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- What is the inheritance of Duchenne's muscular dystrophy?
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- What is the inheritance of cystic fibrosis?
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- What is the inheritance of Marfan syndrome?
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- What is the inheritance of neurofibromatosis-1?
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- What is the inheritance of haemophilia A?
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- Is there a maternal or a paternal age effect for achondroplasia?
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