Results and stats for "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.
- Tetralogy of Fallot
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- [...] is a genetic disorder of the connective tissue caused by a mutation to the FBN-1 gene.
- Marfan syndrome
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- Is Marfan syndrome caused by an inherited or de novo mutation?
- De novo
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- Is Marfan syndrome caused by a dominant or recessive mutation?
- Dominant
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- [...] is a type of short-limbed dwarfism caused by a de novo mutation to fibroblast growth factor receptor 3 (FGFR3).
- Achondroplasia
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- Is achondroplasia caused by an inherited or de novo mutation?
- De novo
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- Is achondroplasia caused by a dominant or recessive mutation?
- Dominant
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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.
- q, 17
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- Is neurofibromatosis type 1 caused by an inherited or de novo mutation?
- De novo
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- Is neurofibromatosis type 1 caused by a dominant or recessive mutation?
- Dominant
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- Achondroplasia is a type of short-limbed dwarfism caused by a de novo mutation to [...] ([...]).
- fibroblast growth factor receptor 3, FGFR3
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- Cardiac defects occur in [...]% of cases of Down’s syndrome.
- 40
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- [...]% of foetuses with Down’s syndrome abort spontaneously.
- 60
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- [...]% of cases of Down’s syndrome are caused by meiotic non-disjunction homologous chromosomes.
- 95
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- [...]% of cases of Down’s syndrome are caused by a Robertsonian translocation.
- 5
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- Is there a maternal or paternal age effect for Down’s syndrome?
- Maternal age increases risk
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- [...] syndrome is caused by trisomy of chromosome 18.
- Edward’s
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- Is there a maternal or a paternal age effect for Edward’s syndrome?
- Maternal age increases risk
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- [...]% of babies with Edward’s syndrome die within 1 month, and [...]% within 1 year.
- 30, 90
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- [...] syndrome is caused by trisomy of chromosome 13.
- Patau's
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- Is there a maternal or a paternal age effect for Patau’s syndrome?
- Maternal age increases risk
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- [...]% of babies with Patau syndrome die within 1 month, [...]% within 1 year.
- 45, 85
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- [...]% of foetuses with Turner’s syndrome abort spontaneously.
- 99
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- In 80% of cases of Turner's syndrome, the missing X chromosome should have come from the [...]er.
- fath
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- [...] syndrome is caused by a deletion on the p arm of chromosome 4.
- Wolf-Hirschorn
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- [...] syndrome is caused by a deletion on the p arm of chromosome 5.
- Cri du chat
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- [...] syndrome is caused by a deletion on the q arm of chromosome 7.
- William’s
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- [...] syndrome is caused by the absence of maternally imprinted genes on chromosome 15.
- Angelman
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- [...] syndrome is caused by the absence of paternally imprinted genes on chromosome 15.
- Prader-Willi
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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.
- Albright’s hereditary osteodystrophy
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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.
- Beckwith-Wiedemann
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- Silver-Russell syndrome is associated with [...]creased [...]ternal methylation on chromosome 11.
- de, pa
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- Silver-Russell syndrome is associated with decreased paternal methylation on chromosome [...].
- 11
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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.
- ov
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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 [...].
- p, 11
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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.
- PTH
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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.
- GNAS
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- Prader-Willi syndrome is caused by the absence of [...]ternally imprinted genes on chromosome 15.
- pa
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- Prader-Willi syndrome is caused by the absence of paternally imprinted genes on chromosome [...].
- 15
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- Angelman syndrome is caused by the absence of [...]ternally imprinted genes on chromosome 15.
- ma
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- Angelman syndrome is caused by the absence of maternally imprinted genes on chromosome [...].
- 15
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- William’s syndrome is caused by a deletion on the [...] arm of chromosome [...].
- q, 7
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- Cri du chat syndrome is caused by a deletion on the [...] arm of chromosome [...].
- p, 5
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- Wolf-Hirschorn syndrome is caused by a deletion on the [...] arm of chromosome [...].
- p, 4
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- Patau's syndrome is caused by [...]somy of chromosome [...].
- tri, 13
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- Edward’s syndrome is caused by [...]somy of chromosome [...].
- tri, 18
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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.
- Neurofibromatosis type 1
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- [...] is caused by a defect in the methylation and expression of the FMR1 gene.
- Fragile X syndrome
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- Fragile X syndrome is caused by a defect in the methylation and expression of the [...] gene.
- FMR1
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- What are the 2 most common causes of mental retardation?
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Down's syndrome
Fragile X syndrome - -
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- Down's syndrome [...]creases the risk of developing Alzheimer's disease.
- in
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- [...] syndrome increases the risk of developing Alzheimer's disease.
- Down's
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- Down's syndrome increases the risk of developing [...] disease.
- Alzheimer's
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- What is the inheritance of Duchenne's muscular dystrophy?
- X-linked recessive
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- What is the inheritance of cystic fibrosis?
- Autosomal recessive
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- What is the inheritance of Marfan syndrome?
- Autosomal dominant
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- What is the inheritance of neurofibromatosis-1?
- Autosomal dominant
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- What is the inheritance of haemophilia A?
- X-linked recessive
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- Is there a maternal or a paternal age effect for achondroplasia?
- Associated with advanced paternal age
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