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?
      • 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
      • -