2. • Patau syndrome also known as trisomy 13 and trisomy D
• Affects 1 in 12000 live births
• More than 80 % die within first year of life
3. HISTORY
• It was first observed by Thomaas Bartholin in 1657.
• Actual genetic and chromosomal related parts of it were discovered
by Dr Klaus Patau in 1960, hence the name Patau syndrome
4. Cause
• Each cell in the body has two copies of chromosome 13, one from
each parent.
• In Patau, the cells have 3 copies of chromosome 13, extra material of
extra chromosome attached to another chromosome.
• Most cases are not inherited, occur as random event during
formation of gametes. An error in meiosis (non disjunction of
chromosomes) result in gametes with an abnormal number of
chromosomes.
5.
6.
7.
8. Mosaic Patau
• Only small number of body’s cell have an extra chromosome,
resulting in mixed population of cells with differing numbers of
chromosomes. This is called mosaic patau.
10. Translocation trisomy
• Chromosome 13 attached to one another.
• With a translocation, person have partial trisomy and partial physical
signs of syndrome
11.
12. Some Facts
• Severely disrupts normal development and in many cases, results in
miscarriage, stillbirth or baby dying shortly after birth.
• Babies with patau syndrome grow slowly in the womb and have low
birth weight, along with a number of other serious medical problems.
• 90% die within first year
• 5-10% with less severe forms of syndrome, such as partial or mosaic
trisomy 13, live for more than a year.
13.
14. Brain
• Hydrocephalus
• ACC
• Mega cisterna magna
• Spina bifida
• Mental and motor
disabilities similar to that
of autism
• Microcephaly or less
rounded brain resulting in
more of an egg shaped
skull
15. Persistent stapedial
Artery
• Prevalence-very rare- 0.02-
0.5 %
• Diagnosed incidentally as
most of time asymptomatic
• Stapedial branch of
posterior auricular artery
remains within the ear after
first 10 weeks of pregnancy.
16. • Tinnitus, hearing loss and
sometimes mass seen over
promontory of middle ear
17. EYE
• Microphthalmia or
crossed eyes
• Cataracts
• Sensory nystagmus or
involuntary twitching of
eyes
• Optic nerve hypoplasia,
or the
underdevelopment of
the optic nerve.
18. MUSCULAR AND SKIN
PROBLEMS
• Prominent heels and
deformed feet (rocker
bottom feet)
• Strange palm patterns,
simian line Single palmar
crease)
• Cutis aplasia-disruption
of scalp
19. Congenital vertical
Talus
• The bottom of the foot
flexes in opposite direction,
making the middle of the
foot touches the floor,
while the toes and heel
curved upwards, touching
the shin.
20. HEART
• 80 % infants have congenital heart defects, such as ASD, VSD, PDA
• HLHS
• Significantly higher heart rate
28. Treatment
• No treatment
• Procedures to sustain life
• Surgery is required to fix defects
• Severe neurologic and vascular problem babies wont survive for even
a year
• Occupational and speech therapy
