TRISOMY 13

U or ND
TA SY R
PA

OM
E
PATAU SYNDROME
Caused by a chromosomal abnormality, extra copy of
chromosome 13 also known as TRISOMY 13 or TRISOMY D.
Trisomy 13 caused by nondisjunction of chromosomes
during meiosis
Affects about 1 in 12,000 live births.
More than 80% of infants with Patau syndrome die
within their first year of life
TRISOMY 13
 HISTORY

Patau syndrome or Trisomy 13 as

it was first called, was observed
by Thomas Bartholin in 1657.

However, the actual genetic and

chromosomal related pairs of it
were discovered by Dr. Klaus
Patau in 1960, hence the name
“PATAU SYNDROME”
 CAUSE
In Patau Syndrome, the cells have three
copies of chromosome 13 instead of the
normal two, as well as extra material
from the extra chromosome attached to
another chromosome, resulting in
changes.

Chromosome 13 becomes attached to

another chromosome (translocated).
With a translocation, the person has a
partial trisomy for chromosome 13 and
often the physical signs of the syndrome
differ from the typical patau syndrome.

A baby with a cleft plate, a common
abnormality of Patau syndrome.
TRISOMY 13
Most cases are not inherited
but occur as random events
during the formation of
gametes.
A small percentage of cases occur
when only some of the body’s cells
have an extra copy; such cases are
called MOSAIC PATAU. It is also not
inherited. It occurs as a random
error during cell division early in
fetal development.
 MANIFESTATIONS AND PHYSICAL FINDINGS
Mental and motor disabilities similar to that of autism.
Microcephaly, or less rounded brain resulting in more of an egg shaped skull.
Eye structure defects:
1. Microphthalmia, or crossed eyes( may involve one eye or both)
2. Cataracts
3. Sensory Nystagmus or involuntary “twitching” of the eye
4. Optic nerve hypoplasia, or the underdevelopment of the optic nerve
TRISOMY 13
 MUSCULAR PROBLEM
Polydactyly, or extra fingers/ toes.
Low down ears
prominent heels and deformed feet, called ROCKER BOTTOM FEET
Strange palm patterns, commonly called the SIMIAN LINE
Overlapping of the fingers over thumb
Cleft plate

Polydactyly SIMIAN LINE ROCKER BOTTOM FEET

 TREATMENT

There is no treatment to address the condition.

However, there are procedures to sustain life for a
bit.
Most times, surgery is required to fix defects to
allow the child to survive for as long as possible.
Since most infants with Patau syndrome die within
the first year of life, special management /
procedures are neccessary; this is very trouble
surviving the first few days or weeks of life due to
severe neurological and vascular problems.