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PATH 161 > PATH 161 - Congenital and Genetic Disorders > Flashcards

PATH 161 - Congenital and Genetic Disorders Flashcards

1
Q

Chromosomes

A
  • each cell contains 22 pairs of autosomes
  • 1 pair of sex chromosomes
  • genetic code of living cells
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2
Q

Mitosis

A
  • cell reproduction resulting in 2 daughter
    cells with the same DNA as parent cell
  • parent cell and daughter cells contain 46
    chromosomes
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3
Q

Meiosis

A
  • special method of cell division where each
    daughter cell receives half the # of
    chromosomes (23 chromosomes)
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4
Q

Karyotype 染色體組型

A

chromosomes arranged by size and shape

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5
Q

Gene

A
  • length of DNA, inherited from a parent
  • controls all physical characteristics and
    metabolic processes of the cell
  • found at a specific location on a chromosome
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6
Q

Genotype 基因型

A

Entire genetic makeup of an individual

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7
Q

Alleles 對立形質

A

Alternate forms of a gene
A gene’s matching function
- homozygous 同型結合的, 純合子的
- heterozygous 雜合的

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8
Q

Homozygous

A

same on both chromosomes

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9
Q

Heterozygous

A

different on both chromosomes

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10
Q

Mutation

A
  • error in process of cell replication
  • may be spontaneous
  • may result from exposure to harmful
    substance
    ie. radiation, drugs
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11
Q

Phenotype 顯型

A

expression or effect of a gene

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12
Q

Congenital defects

先天的缺陷

A
  • disorders present a birth
  • include genetic (inherited) disorders
  • include developmental disorders
    (due to something which occurs during
    pregnancy)
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13
Q

Single-Gene disorders
Inheritance Patterns
遺傳

A
  • whether gene is carried on an autosome or
    sex (x) chromosome
  • whether gene (allele) is dominant or
    recessive
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14
Q

Dominant

A

allele that will always be expressed in a heterozygous individual.

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15
Q

Recessive

A

traits that will only be expressed in a homozygous condition

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16
Q

Single-Gene Disorders
Punnett Square
(田字框, 計算可能性-probability)

A 
- statistical predictions for outcome of
  pregnancy
- pattern of inheritance
  (ie. gene / allele = dominant or recessive)
- parents' genotypes 基因型
  (do they have or carry the gene for this    
   trait or disease)
- autosomal recessive inheritance
- autosomal dominant inheritance
- x-linked recessive inheritance
17
Q

Autosomal Dominant Disorder

  • adult polycystic 多囊的kidney disease
  • Huntington’s chorea 舞蹈病
  • familial hypercholesterolemia 血膽脂醇過多
  • marfan’s syndrome
A
  • 當病患呈現dominant 時會是兩個大寫
  • 健康者normal 則會是兩個小寫
  • carrier 則是一個大寫跟一個小寫

affected / carrier = heterozygous 雜合的
normal = homozygous
(same on both chromosomes)

18
Q

Autosomal Recessive Inheritance

  • Cystic Fibrosis
  • Phenylketonuria
  • Sickle cell anemia
  • Tay-Sachs disease
A
  • 當病患呈現recessive 時會是兩個小寫
  • 健康者normal 則會是兩個大寫
  • carrier 則是一個大寫跟一個小寫

heterozygous = 雜合的

19
Q 
X-Linked Recessive Inheritance
- Color blindness
- Duchenne muscular dystrophy 
  迪謝內肌營養不良
- Hemophilia A 血友病
A
  • 孩子有分男女生
  • 媽媽是兩個 XX
  • 爸爸是一個 X 跟一個 Y
  • 如果是recessive inheritance / disorder 時
    病患會是兩個小寫
    健康者normal 則會是兩個大寫
    carrier 則是一個大寫跟一個小寫
  • 爸爸的 Y chromosome 永遠都不會有 trait
  • 假設媽媽是 carrier, 爸爸是健康者
    媽媽 = XD, Xd / 爸爸 = XD, Y
  • 假設媽媽是 carrier, 爸爸是病患
    媽媽 = XD, Xd / 爸爸 = Xd, Y
  • heterozygous = 雜合的
20
Q

Chromosomal Disorder

- Numerical Abnormalities

A 
occur when parts of chromosomes are rearranged or lost during replication
人體染色體數字不正確 正常都是兩個一對
Numerical Abnormalities 分為兩列:
1. Autosomes 正染色體
- Trisomy 21 (三(染色)體細胞)
   3 chromosomes rather than two in the 21
   position 
   ie. Down's Syndrome
  1. Sex Chromosomes
    - Monosomy (單體性(染色體))
    occurs when only 1 sex chromosome (X) is
    present.
    ie. Turner Syndrome
    Klinefelter syndrome
21
Q

Turner Syndrome

A
  • Example of Chromosomal Abnormality
  • only have 1 copy of sex chromosomes
  • has only 45 chromosomes (少一個)
  • 45, X0
  • result in physical abnormalities and lock of
    ovaries
  • short stature
  • neck: short and webbed
  • swollen hands and feet
  • wide chest, broadly-spaced nipples
22
Q

Klinefelter Syndrome

又稱為Polysomy X 多體性

A
  • Example of Chromosomal Abnormality
  • have 1 extra X chromosomes
    instead of XY 變成了XXY
  • total of 47 chromosomes in each cell (多1個)
  • result in small testes and sperm are not
    produced
  • very tall, effeminate
  • breats may be enlarged
23
Q

Down Syndrome

A
  • Example of Chromosomal Abnormality
  • Trisomy 21
  • result in defects in physical and mental
    development
24
Q

Down Syndrome

Risks

A
  • high risk of developing leukemia
  • increase developing Alzheimer’s disease after
    40 y.o.
25
Q

Down Syndrome

Effects

A
  • developmental stages are delayed
  • sexual development is delayed or
    incomplete
  • cognitively impaired (but severity varies
    with the individual)
  • visual problems
  • hearing problems
  • obstructions in the digestive tract
  • celiac 腹腔的 disease
  • congenital heart defect
  • decrease resistance to infection
    (immune deficit)
26
Q

Down Syndrome

Physical Characteristics

A
  • head is small and has a flat facial profile
  • eyes are slanted 傾斜 and irises contain
    Brushfield spots
  • mouth tends to hang open and large
    protruding 突出的 tongue
  • hands are small and plamar crease 折縫
  • muscles tend to be hypotonic
  • joints are loose
  • small ears and flat occiput 後頭部
  • wide space btn 1st and 2nd toes
27
Q

Chromosomal Disorder

- Structural Abnormalities

A 
- possible 4 types of structural abnormalities
  can occur
- deletion
- duplication
- translocation
- inversion
28
Q

Structural Abnormalities

Deletion

A
  • genetic material
  • occurs when a part of chromosome is lost
    from the end of chromosome or btn 2
    breaks within the chromosome
  • this material is usually lost
29
Q

Structural Abnormalities

Duplication

A
  • genetic material
  • occurs when both chromosomes of a
    homologous pair 異體同型的 exchange
    unequal pieces of chromosomes
  • result in repeat of some info on 1
    chromosome
30
Q

Structural Abnormalities

Translocation

A
  • genetic material
  • occurs when chromosomes of non -
    homologous pairs exchange or transfer,
    pieces of chromosome
  • 2 types of translocation:
    1. reciprocal translocation
      both chromosomes exchange parts
    2. simple translocation
      1 chromosome transfers a part of itself to
      a non-homologous chromosome
31
Q

Structural Abnormalities
(Inversion)
(染色體的)倒位

A
  • genetic material
  • occurs when a chromosome has broken
    into 2 places and the info btn the breaks
    becomes inverted before it is reinserted
    重新插入
32
Q

Multifactorial Disorders
多因子的
(Definition)

A 
- combination of genetic influences and
  environmental factors
- inherited tendency toward a disorder
- it is expressed following exposure to 
  certain environmental factors
33
Q

Multifactorial Disorders

Examples

A
  • congenital dislocation of hip
  • cleft lip 兔唇 / cleft palate 裂齶
  • clubfoot 畸形足
  • pyloric stenosis 幽門狹窄
  • hypertension
  • CAD
  • type 2 diabetes
  • some cancers (breast, colon)
34
Q

Developmental Disorders

Definition

A

caused by damage to one or more body structures during:

  • embryonic of fetal development
  • labor and delivery
  • shortly after birth
35
Q

Developmental Disorders

Causes

A
  • spontaneous
  • intrauterine 胚胎時期的 environment
    examples:
    1. maternal nutrition / disease
    2. exposure to teratogens 畸胎
  • difficulties during labor & delivery and
    neonatal 初生的 period
    example:
    cerebral palsy 癱瘓 due to hypoxia 氧不足
    bilirubin toxicity, or trauma
36
Q

Purposes of genetic screening

A
  • Reduces incidence of disease
  • offers reassurance and guidance to
    individuals or families
37
Q

Recommendations for Screening

A
  • family / ethnic history of specific disease
  • previously given birth to a child with an
    abnormality
  • advanced maternal age
38
Q

Common Diagnostic Tools / tests

For Genetic Screening

A
  • Pelvic Ultrasonography (obstetrics 產科學)
  • Chromosome Karyotype
  • Genetic Testing
  • Alpha-Fetoprotein (AFP)
  • Amniocentesis
  • Chorionic Villus Sampling (CVS)
  • Fetoscopy
  • Neonatal testing (ie. PKU, hypothyroidism)

PATH 161 (4 decks)

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