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Abnormal groups of genes passed down from one generation to another (a cause of genetic health problems)
- Inherited genetic disease
- CF, PKU, muscular dystrophy
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Sudden appearance of an abnormal form of gene in the one part of body (a cause of genetic health problems)
- somatic genetic diseases
- cancer
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Abnormalities in chromosomal structure (a cause of genetic health problems)
- Chromosomal abberation
- down's syndrome
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Polyploidy
- Extra set of chromosomes
- triploidy means there are 69 chromosomes
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2 breaks within a single chromosome with re-incorporation of the inverted segment; may- not have visible affects is called
Inversion, a chromosomal structure change
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Segment of one chromosome maybe transferred to another
Translocation, a chromosomal structure change
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deletion, a chromosomal structure change
Loss of a portion of the chromosome
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chromosomes with very small arms such as 13, 14, 15, 21, or 22) attach to one another and form one large chromosome called
Robertsonian translocation,
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Pateu syndrome is cause by (genetically speaking
- Extra chromosome form a nondisjunction in maternal meiosis
- Unbalanced translocation
- Trisomy 13
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What are the symptoms of patau syndrome
- Mental retardation
- Hypotonia
- Micorganthia
- Polydacyl
- Heart defects
- Skin defect of posteriooor scl
- Rocker bottom feet
- g/I defects crytochisism and norma scrotum/penis
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What is the genetic cause of Cru di chat syndrome
- Deletion of the short arm of
- chromosome 5
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What are the symptoms of Cru di Chat Syndrome
- Mental retardation
- Microcephaly
- Hyperteroilism- extreme width between eyes
- Epithacanthlic folds and low set ears
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2 sex chromosome abnormalities are
- •Turner Syndrome (XO)
- •Monosomy X
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What are the symptoms of DiGeorge Syndrome and what is it cause by
- 1.Absent thymus and parathyroid glands 2.Cardiac malformations
- 3.Hypertelorism
- 4.Low set ears
- 5.Microganthia
- 6.Failure to thrive
- caused by deletion of 22... happens by accident in fertilization
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Klinefelter's syndrome
- not an inherited disorder, occurs as a random event during the formation of the reproductive cells
- XXY
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Fragile X
- most common form of mental retardation
- affects men more than women
- occurs in a X linked dominant fashion
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What are some examples of autosmomal dominant diseases?
- Huntington's disease
- Polydactaly
- hypercholesterolemia
- Marfan syndrome (sunken chest, long limbs, weakened aorta)
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What are some examples of autosomal recessive diseases?
- •Cystic Fibrosis (CF) Lung congestion, malabsorption, male infertility etc.
- •Phenylketonuria (PKU) mental retardation, fair skin
- •Sickle Cell Disease (SCD) pain, spleen involvement, anemia
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what is the largest chromosome? the smallest?
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What are some example of x linked recessive disorders
- •Hemophilia (bleeding disorder)
- •Muscular Dystrophy (Duchene Form (muscular weakness)
- •Menkes Disease (abnormal copper transport, brain atrophy)
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