Patau Syndrome

Definitions:
Is a syndrome caused by a chromosomal abnormality, in which
some or all of the cells of the body contain extra genetic material from
chromosome 13. The extra genetic material disrupts normal
development, causing multiple and complex organ defects. This can
occur either because each cell contains a full extra copy of
chromosome 13 (a disorder known as trisomy 13 or trisomy D), or
because each cell contains an extra partial copy of the chromosome
(i.e., Robertsonian translocation) or because of mosaic Patau syndrome.
Full trisomy 13 is caused by nondisjunction of chromosomes during
meiosis (the mosaic form is caused by nondisjunction during mitosis).

https://en.wikipedia.org/wiki/Patau_syndrome

Illustration:
Frequency:
Trisomy 13, or Patau syndrome, is the least common of the live-
born trisomy disorders, with an incidence of 1 in 5000 to 1 in 2,000 live
births. There is an equal distribution between affected males and
affected females. 75% of trisomy 13 cases are due to maternal
nondisjunction, 20% of cases are due to a translocation, and 5% of
cases are due to mosaicism. The major midline dysmorphic features of
trisomy 13 are due to a defect in the fusion of the midline prechordial
mesoderm in the first three weeks of gestation. Trisomy 13 tends to
present with more severe craniofacial and midline defects than are
found in Trisomy 18 or 21.

https://pedclerk.bsd.uchicago.edu/page/trisomy-18-edwards-
trisomy-13-patau

Inheritance Pattern:
Most cases of trisomy 13 are not inherited and result from
random events during the formation of eggs and sperm in healthy
parents. An error in cell division called nondisjunction results in a
reproductive cell with an abnormal number of chromosomes. For
example, an egg or sperm cell may gain an extra copy of chromosome
13. If one of these atypical reproductive cells contributes to the
genetic makeup of a child, the child will have an extra chromosome 13
in each cell of the body.

Translocation trisomy 13 can be inherited. An unaffected person can

carry a rearrangement of genetic material between chromosome 13 and
another chromosome. These rearrangements are called balanced
translocations because there is no extra material from chromosome 13.
A person with a balanced translocation involving chromosome 13 has an
increased chance of passing extra material from chromosome 13 to
their children.

https://ghr.nlm.nih.gov/condition/trisomy-13#inheritance

Diagnosis and Management:

Diagnosing Patau Syndrome

Infants with Patau syndrome may present with a single

umbilical artery at birth. Many times there are signs of congenital
heart disease, such as atrial septal defect, abnormal placement of
their heart towards the ride side of their chest, ventricular septal
defect, or patent ductus arteriosus. Ultrasound or gastrointestinal X-
rays might display rotation of the infant's internal organs.

CT or MRI scans of the infant's head can show a problem with the
structure of their brain. The problem is referred to as,
'holoprosencephaly,' and involves the joining together of both sides of
the infant's brain. Chromosome studies, in addition to these tests, can
help to make a definitive diagnosis of Patau syndrome, as well as
differentiating between Patau syndrome, mosaicism, and partial Patau
syndrome.

Treatment of Patau Syndrome

Treatment of children with Patau syndrome involves planning

on a case-by-case basis. The forms of treatment a particular person
receives is dependent upon the person's particular condition.
Intervention through surgical means are commonly withheld for the
first few months of the person's life due to the high mortality rate of
children with Patau syndrome. Both parents and health care workers
have to weigh decisions concerning extraordinary life-prolonging
measures against the severity of the physical and neurological defects
the child is experiencing and the likelihood of the child's post-surgical
recovery, or prolonged survival.

Patau syndrome involves many abnormalities that are not compatible

with life. Greater than eighty-percent of infants with the syndrome do
not live past their first month. Complications due to the syndrome
start nearly immediately, with many infants experiencing heart disease.
Complications of Patau syndrome can include feeding problems,
breathing difficulties or lack of breathing, deafness, heart failure,
seizures, and vision problems.

These resources address the diagnosis or management of trisomy

13:

Genetic Testing Registry: Complete trisomy 13 syndrome

MedlinePlus Encyclopedia: Trisomy 13

These resources from MedlinePlus offer information about the

diagnosis and management of various health conditions:

Diagnostic Tests
Drug Therapy
Surgery and Rehabilitation
Genetic Counseling
Palliative Care

https://www.disabled-world.com/disability/types/patau-syndrome.php

https://ghr.nlm.nih.gov/condition/trisomy-13#diagnosis

Prognosis:
The disorder has been associated with many life-threatening
complications. More than 80% of patients do not survive beyond the
first month of their lives. Over 80% of sufferers do not live for more
than the first year of their life. Only 5-10% of children with this
condition manage to live past the first year of their life. In a study
conducted on 21 individuals with this condition, only one managed to live
up to 21 years of age while the others only survived past 5 years of
age.

However, children affected with the partial or mosaic forms of this

disorder may have a fully different outcome and hence a much better
prognosis.

Life expectancy is very limited. Median survival is 2.5 days.

About 50% live longer than one week.
5-10% of infants live longer than one year.
Profound learning disability and developmental delay occur in
survivors. Seizures and feeding difficulties are common.
However, trisomy 13 mosaicism causes a variable phenotype
ranging from complete trisomy 13 with neonatal death, to just a
few dysmorphic features and prolonged survival.

http://www.primehealthchannel.com/patau-syndrome.html

http://patient.info/doctor/pataus-syndrome-trisomy-13