Results and stats for "Genetic syndromes"

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Related quizzes

• Muller's morphs
• Genetics for developmental abnormalities
• Chromowhat?

Most correctly guessed answers

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

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