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(From:
http://www.nlm.nih.gov/medlineplus/ )
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Notes from LivingWithTrisomy13.org |
Alternative Names
Patau syndrome |
Trisomy 13 terms from around the world:
Trisomy 13 Syndrome
Trisomie 13
Trisomee
Trisome
Trisomic
Patau’s Syndrome
Chromosomal Abnormalities, Chromosome Anomalies, Disorder
Fetal Aneuploidy |
Definition
Trisomy 13, also called Patau syndrome, is a
genetic disorder associated with the presence of extra material from
chromosome 13. |
Definition For Patients
Genetics Home Reference
Your Guide to Understanding Genetic Conditions
What is Trisomy Index
Comprehensive and easy to follow explanations of full trisomy,
translocation, chromosome, mosaicism, phenotype, Karyotype, mitosis, and
meiosis. |
Causes/Risk Factors
Trisomy 13 occurs when extra DNA
from chromosome 13 appears in some or all of the body's cells.
- Trisomy 13 -- the presence of an extra (third) chromosome 13 in
all of the cells.
- Trisomy 13 mosaicism -- the presence of an extra chromosome 13
in some of the cells.
- Partial trisomy -- the presence of a part of an extra chromosome
13 in the cells.
The extra material interferes with normal development.
Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases
are not passed down through families (inherited). Instead, the events
that lead to Trisomy 13 occur in either the sperm or the egg that forms
the fetus. |
Causes, Incidence and Risk factors
SOFT
Support Organization For Trisomy 18, 13 and Related Disorders
Trisomy 13 Facts – Heart Defects, Medical Problems, Common Disorders and
Routine Follow up care
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Symptoms
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Name and type of trisomy
Josiah (Full)
Natalia (Full)You can use the SEARCH function on this
site to view many of the children who have had these Symptoms.
View photos and read how these kids are doing. |
Exams and Tests
The infant may have a single umbilical artery at
birth. There are often signs of congenital heart disease, such as:
Gastrointestinal x-rays or ultrasound may show rotation of the
internal organs.
MRI or CT scans of the head may reveal a problem with the structure
of the brain. The problem is called holoprosencephaly. It is the joining
together of the two sides of the brain.
Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial
trisomy. |
WHAT TESTS SHOULD BE DONE ONCE MY CHILD IS DIAGNOSED WITH TRISOMY 13
(Prenatally & At Birth)
By Christine Nelson MD,
Pediatric Hospitalist |
Treatment
Medical management of children
with Trisomy 13 is planned on a case-by-case basis and depends on the
individual circumstances of the patient. |
Treatment (Prenatal / Postnatal)
For Health Professionals ~
For Patients Families
Articles & Support Resources From Medical Authorities
& Families Living with the Genetic Profile of Trisomy 13/Patau Syndrome
Intensive cardiac management in patients with trisomy 13 or trisomy 18
Am J Med Genet Part A. |
Support Groups
Support Organization for Trisomy 18, 13 and
Related Disorders (SOFT) --
www.trisomy.org
Living with Trisomy 13 --
www.livingwithtrisomy13.org |
Click here for Support Group list |
Outlook (Prognosis)
The syndrome involves multiple abnormalities,
many of which are not compatible with life. More than 80% of children
with trisomy 13 die in the first month. |
Outlook (Prognosis)
***We believe ***
Tenecia Hargrave is the oldest living Full
Trisomy 13 born in 1982
Lynne King is the oldest living Partial
Trisomy 13 born in 1959,
Becca Trewin is the oldest living trisomy
13 Mosaic born in 1975 |
Possible Complications
Complications begin almost immediately.
Congenital heart disease is present in approximately 80% of infants
with Trisomy 13. Complications may include:
- Breathing difficulty or lack of breathing (apnea)
- Deafness
- Feeding problems
- Heart failure
- Seizures
- Vision problems
When to Contact a Medical Professional
Call for an appointment with your health care
provider if you have had a child with Trisomy 13, and you plan to have
another child. |
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Prevention
Trisomy 13 can be diagnosed prenatally by
amniocentesis with chromosome studies of the amniotic cells.
Parents of infants with trisomy 13 caused by a translocation should
have genetic testing and counseling, which may help them prevent
recurrence. |
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Update Date: 7/1/2007
Updated by: Brian Kirmse, MD, Mount Sinai School
of Medicine, Department of HumanGenetics, New York, NY. Review provided
by VeriMed Healthcare Network.
(From:
http://www.nlm.nih.gov/medlineplus/ )
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Living with Trisomy 13 ~ NEWS & UPDATES |
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