Trisomy in Research

Trisomy 18: Japanese study, parental experience and questionaire: http://trisomy.org/wp-content/uploads/2015/03/Japan-T18-Medical-Genetics.pdf 

 Wilms tumor commonly found in persons with Trisomy 6, 7, 8, 12, 13, and 18: http://atlasgeneticsoncology.org/Tumors/WilmsID5034.html

 Wilms tumor commonly found in persons with Trisomy 1: http://www.ncbi.nlm.nih.gov/pubmed/16213366

Evolving medical and surgical management for babies with Trisomy 18http://www.ncbi.nlm.nih.gov/pubmed/24503533

Trisomy prevelances 2004-2006 http://www.cdc.gov/ncbddd/birthdefects/features/birthdefects-keyfindings.html 

Trisomy 16 and 21 brain researchhttp://www.sciencedirect.com/science/article/pii/000689939390353O 


Trisomy and very low birth weight (VLBW) http://pediatrics.aappublications.org/content/133/2/226


Trisomy 13 babies are living longer, even with only minimal medical interventions! This is an encouraging publication of a longer length of life for babies with Trisomy, even with minimal medical treatments!!! This is huge!! This means that if babies with Trisomy are surviving longer without the needed life saving treatments, there is more reason to give them the medical interventions to further the length of their life!! We are proud to be part of a movement to get our kiddos with Trisomy, life saving treatments!!http://www.ashg.org/2013meeting/abstracts/fulltext/f130120551.htm

Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients.http://www.ncbi.nlm.nih.gov/pubmed/22487910


Case Study: Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocationhttp://www.ncbi.nlm.nih.gov/pubmed/24032288


Trisomy in Research: Triomy 12 and leukemia cells http://bloodjournal.hematologylibrary.org/content/early/2013/09/25/blood-2013-06-507335.abstract


Neuropsychological and behavioural phenotype of Dandy–Walker variant presenting in chromosome 22 trisomy

A case study:http://jid.sagepub.com/content/17/2/102.abstract 

The brain: a 27 year old male with T18, case study:http://jcn.sagepub.com/content/2/3/194.abstract

 Mosaicism Trisomy 18; 2 case studies: http://www.wjpch.com/UploadFile/13-179.pdf

 Trisomy in research: Researchers turn off Down's syndrome genes.http://www.nature.com/news/researchers-turn-off-down-s-syndrome-genes-1.13406

 Trisomy in research: Trisomy 18 and neual tube defects.http://www.ncbi.nlm.nih.gov/pubmed/23831245
Trisomy in a medical journal: Trisomy 8 mosaicism and epigenetic study of aneuploidy. http://www.epigeneticsandchromatin.com/content/6/1/18/abstract and here:http://www.ncbi.nlm.nih.gov/pubmed/23816241?dopt=Abstract&holding=f1000,f1000m,isrctn 

 Did you know there are 5,760 trisomy case studies, published in US National medical articles? http://www.ncbi.nlm.nih.gov/pubmed/?term=trisomy+case+study


 Trisomy 18 and threshold benefit (medical treatments as parents wish, or not?) http://pediatrics.aappublications.org/content/early/2013/05/29/peds.2012-3643.abstract

 Parents ofNatural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support grouphttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35990/abstract

 Deļ¬cits in human trisomy 21 iPSCs and neurons:http://www.pnas.org/content/early/2013/05/22/1216575110.full.pdf 

 Trisomy 8 and cancer in a Medical Journal:http://abstracts2.asco.org/AbstView_132_116654.html


 Trisomy 18 in a Medical Journal October of 2012. I can't stress the following quote enough!!! "Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team." Parents are being told their baby has Central Apnea, without testing for it! Obstructive apnea is a leading cause of infantile death for Trisomy 13 and and Trisomy 18. ://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520824/

Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients http://www.ncbi.nlm.nih.gov/pmc/articles//
Hand surgeon blogs about Trisomy 8:http://congenitalhand.wustl.edu/2013/03/trisomy-8.html
Trisomy 16 and heart study in mice.http://cardiovascres.oxfordjournals.org/content/39/1/155.full

Trisomy 21 and Congenital heart defects: http://onlinelibrary.wiley.com/doi/10.1111/jpc.12129/abstract

Trisomy 8 Stem Cell research: http://scienceblog.com/61608/researchers-study-use-of-dasatinib-for-patients-with-high-risk-mds/#5uZHCHT3ERIm43gV.01

Trisomy 18 and Epilepsy onset: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35763/abstract

Prenatal testing for Trisomy 13 Mosaicism: http://www.nature.com/gim/journal/vaop/ncurrent/full/gim201326a.html

Trisomy 21 and missing protein: http://www.the-scientist.com/?articles.view/articleNo/34847/title/New-Down-Syndrome-Protein-Found/

Symptomatic Atlantoaxial instability in an adolescent with Trisomy 21. http://www.ncbi.nlm.nih.gov/pubmed/23564301

Trisomy 21 linked to brain protein loss: http://wp.stockton.edu/gfb1/2013/04/15/trisomy-21-linked-to-brain-protein-loss/

Anaesthetic management of hip arthroplasty in an individual with trisomy 21 and Eisenmenger's syndrome: http://www.ncbi.nlm.nih.gov/pubmed/23580670

Trisomy incident research in Romania:http://informahealthcare.com/doi/abs/10.3109/14767058.2013.794215




Anesthesiological considerations for patients with trisomy 21







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