PATAU SYNDROME - TRISOMY 13 by https://padlet.com/anna_ervin1/nyfps8nun11 en-us 2016-02-15 19:24:09 UTC 2016-02-29 19:22:47 UTC hello@padlet.com https://padlet-uploads.storage.googleapis.com/99043943/4c35a638526d164b2394baa03a77ede4510b7c75/65ac8ce6ac264ca7ff4d8a413fe43a7e.jpg DEFINITION  anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95177217 Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair.]]> 2016-02-15 21:13:12 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95177217 EFFECTS ON BODY anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95177683 Trisomy 13 Syndrome is often characterized by craniofacial, neurologic, heart (cardiac), and/or other defects.]]> 2016-02-15 21:18:08 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95177683 SOURCES anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95177907 http://rarediseases.org/rare-diseases/trisomy-13-syndrome/ 
https://www.nlm.nih.gov/medlineplus/ency/article/001660.htm
http://www.disabled-world.com/disability/types/patau-syndrome.php
http://www.cafamily.org.uk/medical-information/conditions/p/patau-syndrome/
http://www.hopefortrisomy13and18.org/index.php/en/trisomy-children/inspirational-stories
http://trisomy.org/wp-content/uploads/2014/08/Carebook-updated-8-15-14.pdf
http://trisomy.org/?page_id=23347]]> 2016-02-15 21:20:08 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95177907 SYMPTOMS anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95392039 Small Eyes, Clenched Hands, Low-Set Ears, Small lower jaw, Seizures, Limb abnormalities, Low Birth Weight, Scalp Defects Abnormal Brain Development, Learning Disability ]]> 2016-02-16 19:18:55 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95392039 CAUSES anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95395148 Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.
-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.
]]> 2016-02-16 19:27:11 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95395148 INHERTIANCE anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95395208 Patau syndrome usually happens as 'one off' (sporadic) event in a family. In this situation the chance of another baby with Patau syndrome in the family is low. In rare cases, a balanced translocation in a parent can give rise to an unbalanced translocation in their child. This situation is detected on the baby's karotype.]]> 2016-02-16 19:27:24 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95395208 DIAGNOSIS anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95396903 Patau syndrome is often detected during pregnancy on the routine fetal anomaly scan at 20 to 22 weeks gestation (see prenatal diagnosis section). Parents may opt not to continue with the pregnancy. In many cases the baby is lost as a spontaneous miscarriage.
Sometimes a baby may be born with features of Patau syndrome after normal scans in the pregnancy. In this situation, a blood sample from the baby will be sent for karyotype analysis to confirm the diagnosis.
]]> 2016-02-16 19:33:15 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95396903 TREATMENT anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95397189 Parents should meet with the obstetric and neonatal teams to discuss the diagnosis and to prepare for delivery and the care of their baby. It is likely that the baby will be admitted to the special care baby unit, and will require supportive treatments over the first days of life. Many babies with Patau syndrome have congenital problems such as a cleft lip/palate or heart defects. They will need treatments to alleviate symptoms and improve their quality of life.]]> 2016-02-16 19:34:20 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95397189 QUALITY OF LIFE anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/95397560 Surgeries can be done in all areas to improve quality of Trisomy 13 child's life. The surgeries that may be performed vary from child to child. Some of the most common surgeries for Trisomy 13 kids are:
  • GI: GASTROSTOMY
    • Delivers nutrition directly to the stomach.
    • It's one of the ways doctors can make sure kids with trouble eating get the fluid and calories they need to grow
  • GI: FUNDOPLICATION
    • the upper curve of the stomach (the fundus) is wrapped around the esophagus and sewn into place so that the lower portion of the esophagus passes through a small tunnel of stomach muscle
  • ORAL: CLEFT LIP REPAIR
    • Cleft lip and cleft palate repair is surgery to fix birth defects of the upper lip and palate
]]> 2016-02-16 19:35:30 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/95397560 THREE TYPES lora_molloy https://padlet.com/anna_ervin1/nyfps8nun11/wish/96172677
  • Full form - in this form, every cell in the body has three chromosome 13s instead of two.
  • Mosaic form - in this form, some cells have two chromosome 13s while others have three. The extent and severity of the condition will depend upon the ratio of normal to abnormal cells.
  • Partial form - in some cases there may be an extra copy of part of chromosome 13. This is referred to as 'partial trisomy 13'. This may be due to a ring chromosome or an unbalanced translocation. The effects of this may be milder and would require further specialist advice.
    • ]]>     2016-02-19 19:17:59 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/96172677     SURVIVORS anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/97111530 Median survival rate: 2.5 -8.5 days
    Only 10% live to first year of life

    Kimmie - 25 years old]]>     2016-02-24 19:30:14 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/97111530     SURVIVORS CONT'D anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/97113924 Corbin - 135 days]]> 2016-02-24 19:37:42 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/97113924 anna_ervin1 https://padlet.com/anna_ervin1/nyfps8nun11/wish/97800713 2016-02-29 03:11:26 UTC https://padlet.com/anna_ervin1/nyfps8nun11/wish/97800713