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Trisomy 13

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Trisomy 13 – PowerPoint PPT presentation

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Title: Trisomy 13


1
Trisomy 13
  • or
  • Pataus Syndrome

A presentation by A.R.
2
  • Trisomy 13s symptoms were first published by K.
    Patau.
  • Trisomy 13 occurs when either the sperm or the
    egg contains 24 chromosomes instead of 23.
  • When the sperm fertilizes the egg the result is a
    cell or zygote that makes up the baby had 47
    chromosomes instead of the normal 46

1/8000 embryos have trisomy 13
3
Physical Features
  • Small head
  • Sloping forehead
  • wide joints
  • sparse or no eyebrows
  • cleft lip
  • abnormally shaped ears
  • clenched hands, usually with more than 5 fingers

4
Common disorders in 1 month
  • Severe mental retardation
  • feeding difficulties
  • GE reflux
  • slow growth after birth
  • apnea
  • seizures
  • abnormally elevated blood pressure

5
(continued)
  • Kidney defects
  • developmental disability
  • scoliosis

6
Other problems
  • Malformation of the heart and kidney
  • narrow fingernails
  • rounding of the sole of the foot
  • loose folds over the back of the neck

7
Statistics
  • Trisomy 13 is slightly more common to happen in
    females.
  • 1/2 of the affected infants survive the first
    month of life
  • 25 for 6 months
  • 5 for 3 years
  • one case in which he survived for 35 years

8
(continued)
  • 80 of the people have heart abnormalities
  • 20-50 have reversed dextrocardia
  • 10 have omphalocele
  • 66 have holoprosencephaly

9
There is no cure yet for Trisomy 13
10
BUT...
There are ways to help the symptoms
11
Because the infant usually does not live very
long, there are not very many things that could
help, but if the child lives,
  • They should have cardiac evaluations
  • Hearing tests
  • Scoliosis tests

12
Whew...Now, anyone have questions?
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