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
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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

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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

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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

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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

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(continued)

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

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There is no cure yet for Trisomy 13
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BUT...
There are ways to help the symptoms
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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

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Whew...Now, anyone have questions?