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Trisomy 13

Francesca Prospero- 6 th hour. Trisomy 13. Alternate Names. Patau Syndrome D1 Trisomy Chromosome 13 Trisomy Syndrome. Who is most likely to get Trisomy 13?.

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Trisomy 13

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  1. Francesca Prospero- 6th hour Trisomy 13

  2. Alternate Names • Patau Syndrome • D1 Trisomy • Chromosome 13 Trisomy Syndrome

  3. Who is most likely to get Trisomy 13? • There is no ethnicity or gender that is more likely to get Trisomy 13, since it is caused by an error in cell division. More girls survive past the first year and some even survive to be teenagers. It is not autosomal dominant, autosomal recessive, nor X-linked disorder; it’s a mutation. Nondisjunction or translocation result in a reproductive cell with an extra 13th chromosome, which causes Trisomy 13.

  4. How the 13th Chromosome Affects a Person • The 13th chromosome has information that control a baby's growth and development for a few weeks after conception. When they have an extra 13th chromosome, the genetic messages from the 13th chromosomes are confusing and contradict eachother. This causes problems within the major organ systems.

  5. Karyotype of Trisomy 13

  6. Symptoms You can tell by looking at a person that they have something wrong with them, but you may not be able to tell it’s Trisomy 13 by a glance. They have similar facial structure and body types to other chromosomal disorders. Heart defects are a main concern. Surgeries are often necessary. The heart may even be on the right side of the body rather than the left. Also, two parts of the baby’s brain may even grow into one, a condition called holoprosencephaly. • Cleft lip/palate • Extra fingers/toes • Scalp defects • Low-set ears • Severe mental retardation • Seizures • Small eyes, head, and jaw • Brain, heart and kidney defects

  7. Lifespan • Trisomy 13 is fatal. • 1/10,000 babies are born with Trisomy 13 • Only about 18% of babies born with Trisomy 13 live past infancy.

  8. Being Tested for Trisomy 13 • Trisomy 13 can be diagnosed before birth by amniocentesis. • Otherwise, it is definitely recognizable at birth. • If a baby is born with only one umbilical artery, then it’s a sign that they have a congenital heart defect. Trisomy 13 causes heart defects, so doctors will test the baby for Trisomy 13. • An MRI or CT scan will look for holoprosencephaly, which is a condition where the two parts of a baby’s brain grow together as one. That may give the doctor enough information to diagnose Trisomy 13. • Parents may see a genetic counselor, but the chances of having another baby with Trisomy 13 is very unlikely.

  9. Treatments • Typically, treatments vary for each individual. • Physical, speech, and occupational therapy are used to reach their whole developmental potential. • Surgery is sometimes needed to fix heart defects or cleft lips/palates. • The prognosis for Trisomy 13 is very poor. • There is no cure for Trisomy 13… yet!

  10. Support Groups • There are many online message boards at http://www.livingwithtrisomy13.org/messageboard.htm for parents, family members, friends, or even people with Trisomy 13. • SOFT (Support Organization for Trisomy 13, 18, and Related Disorders) is a volunteer organization offering support and information for parents who have, had, or are expecting a child with a chromosome disorder. Also, they educate people who would like to study chromosomal disorders. Their main focus is to help parents of Trisomy 13 or 18 children. There is an annual international conference in Chicago. This year it is July 20-24. It will be held at the Hyatt Lodge, McDonald’s Campus. The number 815-176-SOFT can be called for more information.

  11. Interesting Facts • Not all of the 23 pairs of chromosomes can get a third chromosome. The 13th chromosome is the largest chromosome in which a trisomy can occur. • Of the autosomaltrisomies, trisomy 13 is the most severe. • Trisomy 13 is the rarest autosomaltrisomy.

  12. Natalia’s Story Natalia is the last of four children. Her case of Trisomy 13 was not as severe as others. The only problem doctors saw before her birth was a cleft lip. Mentally, she is delayed but she is a healthy child and is still alive. Unlike many children with Trisomy 13, Natalia lived far past her first year and is happy.

  13. Sources http://www.prenatalpartnersforlife.org/Stories/StoriesTrisomy13_Natalia.htm http://www.genetics.com.au/factsheet/fs29.asp http://health.nytimes.com/health/guides/disease/trisomy-13/overview.html http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm

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