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Yes. The condition is Patau syndrome.
However, the median survival from birth is less than three days.
For some biographical details of individuals with trisomy 13, use the links below.
Over 300 stories of children with trisomy 13. Photos, Videos and Support Resources for families and professionals. http://www.livingwithtrisomy13.org
SOFT USA http://www.trisomy.org
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. http://rarediseases.info.nih.gov/GARD/Condition/7341/QnA/24813/Trisomy_13.aspx#2642
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∙ 14y ago
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∙ 12y agoMy daughter has full Trisomy 13 and will be 6 in Jan. She may not lead a "normal" life of an average 5 year old, but her life is filled with love and happiness. She enjoys eating her favorite pureed foods, listing to lovely children's music, and watches her favorite preschool programs on TV. Her favorite shows are Barney, Dora the Explorer, Go Diego Go! and Jack's Music Show. She loves playing and being sung too. She laughs and smiles all day long. Physically speaking, she rolls and is learning to crawl and stand. When held, she can take steps. We expect her to walk on her own in the next year or 2. For the past 2 years she has been in a special needs preschool. Her teachers always immediately fall in love with her and feel they have been touched by an angel. I have taken her to physical therapy twice a week for the past 2 years. I can honestly say, she is in physical and mentally better shape and then a lot of physically challenged children. It proves to me, that one should not rule out or delete a persons life based on their physical abilities. Happiness and normalcy in life are all relative. *Another parent here: If you go to the added link you will read close to 100 stories of children who are living with trisomy 13. Some of these children communicate verbally while others use their own type of sign/movement to let their parents know their needs. I also have a child now 9yrs, living with trisomy 13. She is perfectly typical for a trisomy 13 child. She is a delightful member of our family. She is not "normal" in the worlds eyes, but whats normal? She brings joy, laughter, fun, excitment, some stress, and every other emotion my "typical/normal" kids bring. Does her life have purpose?, - may be a better question. And that is YES. Her life has been a gift to our family and others in more ways that I could share in this brief paragraph. Come visit the link and meet many more children who live a perfectly normal "trisomy 13" life.
I tried to add info earlier but could never get it to post, so here we go again. I have a 23-year-old daughter with a translocation trisomy. The extra chromosome in her cells consists of part of the long arm of an extra chromosome 13 and part of the long arm of an extra chromosome 15. She is verbal and ambulatory and can read (about 5th-grade level), write, and calculate. She had a rough start (skull, foot, and eye surgeries), has some continuing gastrointestinal issues, scoliosis, and is developmentally delayed, but that does not stop her from enjoying life to the fullest! My daughter loves church, attends a social and continuing education group for higher-functioning adults with special needs, and takes part in a special populations Bowling league and Baseball league.
We have always done whatever was necessary to help our daughter learn, grow, and thrive, just as we did with our son. That is a 'normal' part of how families care for one another. We recognize both of our children for the wonderful gifts that they are!
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∙ 13y agono
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What is the presence of three of a particular chromosome?
This is known as a trisomy. So if there are 3 of chromosome number 13, you would call it trisomy 13.
How do you detect Trisomy 13 or Trisomy 21?
A blood test, called the AFP (alphafetoprotein) or triple screen, may help a pregnant woman find out her baby's risk of several diseases, including Trisomy 21 (Down Syndrome) and Trisomy 13, though it can not give a definite answer.
Which chromosomes are effected in trisomy 13?
Patau syndrome is the result of trisomy 13. Trisomy 13 is usually caused by having an extra chromosome in every cell in the body. Every cell in the human body should contain two chromosomes, one from each parent, however every one in sixteen thousand newborn has three chromosomes. The result of a third chromosome can mean physical disabilities. Most children die within a few days after birth. The disease is not inherited.
What is Trisomy?
A trisomy is a condition in which a person has three copies of a chromosome instead of the usual two copies. Trisomy 9 refers to three copies of chromosome 9. A person can have full trisomy 9 (three copies in every cell) or mosaic trisomy 9 (three copies in some cells but not all).
What are mutation that result in death?
These are called fatal genetic mutations. Same examples are: Tay-Sachs disease, Neimann-Pick disease, Trisomy 18 and Trisomy 13 are "Edwards Syndrome" and "Patau Syndrome," respectively and Cystic fibrosis
Is trisomy 13 curable?
NO
What is the presence of three of a particular chromosome?
This is known as a trisomy. So if there are 3 of chromosome number 13, you would call it trisomy 13.
How do you detect Trisomy 13 or Trisomy 21?
A blood test, called the AFP (alphafetoprotein) or triple screen, may help a pregnant woman find out her baby's risk of several diseases, including Trisomy 21 (Down Syndrome) and Trisomy 13, though it can not give a definite answer.
Which chromosomes are effected in trisomy 13?
Patau syndrome is the result of trisomy 13. Trisomy 13 is usually caused by having an extra chromosome in every cell in the body. Every cell in the human body should contain two chromosomes, one from each parent, however every one in sixteen thousand newborn has three chromosomes. The result of a third chromosome can mean physical disabilities. Most children die within a few days after birth. The disease is not inherited.
Causes of anophthalmos?
Congenital abnormality like Trisomy 13.
Is triosmy lethal or non lethal?
There are many Trisomy 18 and Trisomy 13 Living Survivors. Carrying to term, each child charts their own course, when treated to their unique medical issues.For more information you can go to SOFT Support Organization for Trisomy 18, 13 and Related Disorders. There is also the TRIsoMY Favorite Things blog in the related links below. Therese Ann, Mom to Natalia, living with full trisomy 13. Celebrating 13th Birthday in 2013.
What is the least-common trisomy?
Trisomy 13 Trisomy 13, or Patau�s 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, with affected males equal to affected females. 75% of trisomy 13 cases are due to maternal NDJ, 20% are due to a translocation, and 5% 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. Trisomy 13 has the following clinical features: # Holoporsencephaly # Polydactly # Seizures # Deafness # Microcephaly # Midline Cleft lip # Midline Cleft palate # Abnormal ears # Sloping forehead # Omphalocele # Cardiac and renal anomalies # Mental retardation. Trisomy 13 is also confirmed by karyotype with FISH analysis. 44% of these patients die within 1 month, and > 70% die within one year. Severe mental retardation exists in all survivors as per (http://pedclerk.bsd.uchicago.edu/chromosomalabnormalities.html)
Are there cases of trisomy besides down syndrome that can survive?
My son is 3 years old with full trisomy 18. I have some videos on youtube that I've put together with lots of trisomy families I've found on facebook. My awareness video is of over 100 surviving kids of trisomy 13 and 18. Just go to youtube and search 'trisomy awareness' or trisomy advocacy' and you'll find them. There is also a website called 'livingwithtrisomy13.com' that has stories of over 100 trisomy 13 kids on it. I, also, personally know of two kids with trisomy 8. So, yes, there are cases of kids surviving trisomies other than trisomy 21 (Down Syndrome). :) Alisha Hauber
What are alternative names for Patau syndrome?
Patau's Syndrome Trisomy 13 Syndrome Trisomy D Syndrome Trisomie 13 Trisomee Trisome Trisomic Chromosomal Abnormalities, Chromosome Anomalies, Disorder Fetal Aneuploidy
What is Trisomy?
A trisomy is a condition in which a person has three copies of a chromosome instead of the usual two copies. Trisomy 9 refers to three copies of chromosome 9. A person can have full trisomy 9 (three copies in every cell) or mosaic trisomy 9 (three copies in some cells but not all).
What is the cause of holoprosencephaly?
Holoprosencephaly has no single cause, but about half of all cases are associated with abnormal karyotype (abnormal numbers of chromosomes), especially trisomy 13 (extra copy of chromosome 13) and trisomy 15 (extra copy of chromosome 15).
What is the incidence of patau syndrome?
Patau syndrome, also known as Trisomy 13, is an abnormality of chromosomes in which a patient has an additional 13th chromosome due to a failure of chromosomes to split during meiosis. It can cause the following conditions: motor & mental retardation, extra digits, microcephaly, low-set ears, failure of the forbrain to divide properly, heart defects, eye defects, cleft palate, spinal defects, abnormal genitalia, abnormal palm patterns or overlapping of fingers over thumb. Photos of children with Patau Syndrome - Trisomy 13.
