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Cytogenetics > Autosomal Disorder > Flashcards

Autosomal Disorder Flashcards

1
Q

a disease that is caused by an abnormality in an individual’s DNA.

Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder

A

Genetic disorder

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2
Q

Two copies of an abnormal gene must be present in order for the disease or trait to develop.

CHOICES:
Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder

A

Autosomal Recessive

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3
Q

Carry genes that determine the somatic characteristics and do not have any influence on determining the sex of an individual.

Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder

A

Autosomes or Somatic Chromosomes

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4
Q

Disorders related to autosome

Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder

A

autosomal disorders

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5
Q

A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes.

Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder

A

Autosomal Dominant

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6
Q

A genetic disorder is a result of point mutation or any insertion/ deletion entirely inside one gene. True or False

A

True

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7
Q

Genetic disorders range from a small mutation in DNA to or addition or subtraction of an entire chromosome or set of chromosomes. True or False

A

True

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8
Q

Gene Defect: Fibroblast growth factor receptor 3 (FGR3)

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Achondroplasia

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9
Q

Gene Defect: Sonic Hedgehog

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Holoprosencephaly

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10
Q

Gene Defect: 1 gene (FBN1) encodes a microfibril-forming connective tissue protein

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Marfan Syndrome

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11
Q

Gene Defect: LDL Receptor

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Hypercholesterolemia

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12
Q

Gene Defect: Huntingtin (HD) –CAG repeat expansion within exon 1

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Huntington Disease (Chorea)

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13
Q

Gene Defect: A protein kinase gene (DMPK) –CTG repeat expansion in 3’ untranslated region of the gene

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Myotonic Dystrophy

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14
Q

Gene Defect: Microdeletion at 17q11.2 involving the NF1 gene

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea), Neurofibromatosis 1

A

Neurofibromatosis 1

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15
Q

Gene Defect: Mutations in either polycystin-1 (PKD1) or polycystin-2 (PKD2) gene

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Polycystic Kidney Disease

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16
Q

Gene Defect: Either of the genes encoding the α1 or α2 chains of type I collagen

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Osteogenesis Imperfecta

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17
Q

Clinical Feature: Impaired uptake of LDL, elevated levels of LDL cholesterol, cardiovascular disease, and stroke. Symptoms more severe in homozygous individuals

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Hypercholesterolemia

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18
Q

Clinical Feature: Disorder is characterized by progressive motor, cognitive and psychiatric abnormalities. Chorea –nonrepetitive involuntary jerks –is observed in 90% of patients

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Huntington Disease (Chorea)

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19
Q

Clinical Feature: Abnormalities of the skeleton (disproportionate tall stature, scoliosis), heart (mitral valve prolapse, aortic dilatation, dissection of the ascending aorta), pulmonary system, skin (excessive elasticity), and joints (hypermobility). A frequent cause of death is congestive heart failure.

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Marfan Syndrome

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20
Q

Clinical Feature: Null mutations produce a milder form of the disease. Missense mutations that act in a dominant-negative manner are often perinatal lethal. The disorders are associated with deformed, under mineralized bones that are subject to frequent fracture.

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Osteogenesis Imperfecta

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21
Q

Clinical Feature: Disorder shows anticipation. Muscle weakness, cardiac arrhythmias, cataracts, and testicular atrophy in males. Children born with congenital form have a characteristic open triangle-shaped mouth

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Myotonic Dystrophy

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22
Q

Clinical Feature: Short limbs relative to trunk, prominent forehead, low nasal root, redundant skin folds on arms and legs

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Achondroplasia

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23
Q

Clinical Feature: Malformation of the brain (no or reduced evidence of an interhemispheric fissure), dysmorphic facial features, mental retardation

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Holoprosencephaly

24
Q

Clinical Feature: Heterozygous individuals are predisposed to polycystic kidney disease because they are likely to lose the second good copy of the gene during their lifetime. Multiple renal cysts, blood in urine, end-stage renal disease and kidney failure.

CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)

A

Polycystic Kidney Disease

25
Q

Gene Defect: Cystic fibrosis transmembrane regulator (CFTR) – impaired chloride ion channel function

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Cystic Fibrosis

26
Q

Gene Defect: Anyone of nine genes involved in nucleotide excision repair (locus heterogeneity)

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Xeroderma Pigmentosum

27
Q

Gene Defect: Usually due to a mutation in Phenylananinehydroxylase (PAH)

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Phenylketonuria

28
Q

Gene Defect: Β-Hexosaminidase (A isoenzyme (HEXA)

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Tay-Sachs Disease

29
Q

Gene Defect: Β-Glucosidase

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Gaucher’s Disease

30
Q

Gene Defect: Unknown gene on the short arm of chromosome 6

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Hemochromatosis

31
Q

Clinical Feature: Lysosomal storage disease characterized by splenomegaly, hepatomegaly, and bone marrow infiltration. Neurological symptoms are not common.

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Gaucher’s Disease

32
Q

Clinical Feature: Acute photosensitivity, premature skin aging, premalignant actinic keratoses, and benign and malignant neoplasms of the skin, including basal cell carcinoma, squamous cell carcinoma, or both. 5% of patients develop melanomas. Patients also exhibit ocular problems due to UV damage and have a 10-to 20- fold increased incidence of internal neoplasms due to an inability to repair DNA damage by endogenously generated and environmental genotoxic agents.

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Xeroderma Pigmentosum

33
Q

Clinical Feature: Hypotonia, spasticity, seizures, blindness, death by age 2. An early indication is a cherry red spot on the retina.

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Tay-Sachs Disease

34
Q

Clinical Feature: Mental retardation, if untreated, possibly due to inhibition of myelination and disruption of neurotransmitter synthesis. Detectable by newborn screening and treatable

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Phenylketonuria

35
Q

Clinical Feature: Pancreatic insufficiency due to fibrotic lesions, obstruction of lungs due to thick mucus, lung infections (Staph, aureus, Pseud. aeruginosa)

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Cystic Fibrosis

36
Q

Clinical Feature: Enhanced absorption of dietary iron with accumulation of abnormal, pigmented, iron-protein aggregates (hemosiderin) in visceral organs. Cirrhosis, cardiomyopathy, diabetes, skin pigmentation, and arthritis.

CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum

A

Hemochromatosis

37
Q

Xeroderma Pigmentosum

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Recessive Disorder

38
Q

Neurofibromatosis 1

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

39
Q

Polycystic Kidney Disease

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

40
Q

Cystic Fibrosis

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Recessive Disorder

41
Q

Marfan Syndrome

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

42
Q

Huntington Disease (Chorea)

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

43
Q

Osteogenesis Imperfecta

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

44
Q

Hemochromatosis

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Recessive Disorder

45
Q

Hypercholesterolemia

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

46
Q

Myotonic Dystrophy

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

47
Q

Gaucher’s Disease

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Recessive Disorder

48
Q

Phenylketonuria

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Recessive Disorder

49
Q

Holoprosencephaly

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

50
Q

Tay-Sachs Disease

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Recessive Disorder

51
Q

Achondroplasia

CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder

A

Autosomal Dominant Disorder

52
Q

Heterozygous individuals are predisposed to polycystic kidney disease because they are likely to lose the second good copy of the gene during their lifetime. True or False

A

True

53
Q

In an autosomal recessive disease, both of the parents are affected, what is the ratio of having normal offspring?

A

1:4

54
Q

In an autosomal recessive disease, both of the parents are affected, what is the ratio of having a carrier offspring?

A

2:4

55
Q

In an autosomal dominant disease, when the father is affected, what is the ratio of having normal offspring?

A

2:4

56
Q

In an autosomal recessive disease, both of the parents are affected, what is the ratio of having an offspring that is affected?

A

1:4

Cytogenetics (12 decks)

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