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					Genetics I
            Genetic Problems
• Cystic Fibrosis – CF
• Inherited disorder that
  causes the over
  production of thick
  mucus that clogs the
  lungs and contributes
  to repeated infections.
• Avg. life span
  increased to 32 years.
Klinefelter Syndrome
• XXY sex chromosome caused by
  nondisjunction during meiosis.
• Small genitals / sterility
• Absent or sparse facial hair
• Fat deposits similar to a females
• Decreased muscle mass and
   Downs Syndrome
• Trisomy of Chromosome #21
• Most common genetic birth defect
• Down syndrome is a disorder that
  includes a combination of birth
• Mental Retardation
• Characteristic facial features
• Heart defects, increased infections
• Vision and Hearing problems
• Severity of conditions varies
  among individuals.
    Who is at risk for a Downs
         Syndrome Child?
• Women at age 25 have a 1 in
  1250 chance of having a Downs
  Syndrome child.
• At age 40, the increased risk of
  a Downs Syndrome goes up to
  1 in 100.
Turners Syndrome XO
  Turners Syndrome
• Turner syndrome [TS] is a
  chromosome         abnormality
  affecting only females, caused
  by the complete or partial
  deletion of one X chromosome
  The incidence of TS is
  approximately 1:2000 live
  female births.
• Girls with TS may have only a few or
  several of the features associated with
  TS, but short stature and infertility are
  nearly always present. The possibility
  of growth hormone treatment for short
  stature and IVF for infertility are
  options now available to those with
• The majority of girls and women with
  TS are healthy, happy and lead normal
• Confirmation of a diagnosis of
  TS is by karyotype but a
  suspected diagnosis can be made
  by a series of characteristic
  physical features.
• Two main clinical features of
  TS are short stature and non-
  functioning ovaries.
       Sex-Linked Traits
• Called sex-linked because they
  are only found on the X
• Usually only seen in men
  because there would be no other
  X to compensate for the
  recessive trait.
•Red – Green color-
•High blood pressure

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