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Case Studies

TRIS Project

 

Case Studies
Bruns DA, Southern Illinois University


https://tris.siu.edu/case-studies/

 

 
   

Trisomy 13

 

A Case Study of Trisomy 13: Balancing Hope and Reality
Stafford CO (2015)
Adv Neonatal Care. 15(4): 285-9


https://www.ncbi.nlm.nih.gov/pubmed/26225597

 

Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13
Bruns D (2011)
Am J Med Genet A. 155A(11):2634-40


https://www.ncbi.nlm.nih.gov/pubmed/21990216

 

 

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil
Petry P, Polli JB, Mattos VF et al (2013)
Am J Med Genet A. 161A(6):1278-83


https://www.ncbi.nlm.nih.gov/pubmed/23613355

 

Longevity and Patau syndrome: what determines survival?
Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D (2012)
BMJ Case Rep. doi: 10.1136/bcr-06-2011-4381


https://www.ncbi.nlm.nih.gov/pubmed/?term=patau+peroos

 

 
 

Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism.
Hsu HF1, Hou JW (2007)
Am J Med Genet A. 143A(15): 1739-48


https://www.ncbi.nlm.nih.gov/pubmed/17603803

 

Nine children over the age of one year with full trisomy 13: A case series describing medical conditions
Bruns DA, Campbell E (2014)
Am J Med Genet Part A. 164A: 2987-95


https://doi.org/10.1002/ajmg.a.36689

 

 
   

Trisomy 18

 
 

Caring for an infant with trisomy 18: A case study and guidelines
Bruns DA (2014) Bruns
Clinical Nursing Studies. 2(1): 30-6


https://doi.org/10.5430/cns.v2n1p30

 

Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group
Kosho T, Kuniba H, Tanikawa Y, Hashimoto Y, Sakurai H (2013)
Am J Med Genet A. 161(7): 1531-42


https://doi.org/10.1002/ajmg.a.35990

 

 
 

Twenty-two survivors over the age of 1 year with full trisomy 18: Presenting and current medical conditions
Bruns D, Campbell E (2013)
Am J Med Genet A. 164(3): 610-9


https://doi.org/10.1002/ajmg.a.36318

 

Cardiac surgery in patients with trisomy 18
Kaneko Y, Kobayashi J, Achiwa I et al (2009)
Pediatr Cardiol. 30(6): 729-34


https://www.ncbi.nlm.nih.gov/pubmed/19340475

 

 
 

An Infant With Trisomy 18 and a Ventricular Septal Defect
Janvier A, Okah F, Farlow B, Lantos JD (2011)
Pediatrics. 127(4): 754-9


https://doi.org/10.1542/peds.2010-1971

 


Radical surgery for a ventricular septal defect associated with trisomy 18
Kobayashi J, Kaneko Y, Yamamoto Y, Yoda H, Tsuchiya K (2010)
Gen Thorac Cardiovasc Surg. 58(5): 223-7


https://www.ncbi.nlm.nih.gov/pubmed/20449712

 

 
 

Epileptic apnea in a trisomy 18 infant
Kumada T, Nishii R, Higashi T, Oda N, Fujii T (2010)
Pediatr Neurol. 42(1): 61-4


https://www.ncbi.nlm.nih.gov/pubmed/20004866

 


Trisomy 18 in a 20-year-old woman
Kelly M, Robinson BW, Moore JW (2002)
Am J Med Genet. 112(4): 397-9


https://www.ncbi.nlm.nih.gov/pubmed/12376944

 

 
 

Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome
Petek E, Pertl B, Tschernigg M et al (2003)
Genet Couns. 14(2): 239-44


https://www.ncbi.nlm.nih.gov/pubmed/12872820

 

Trisomy 18 in a second 20-year-old woman
Shanske AL (2006)
Am J Med Genet Part A. 140A: 966–7


https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.31171

 

 
   

Mosaic Trisomy

 
 

Phenotypic spectrum of mosaic trisomy 18: Two new patients, a literature review, and counseling issues
Tucker ME, Garringer HJ, Weaver DD (2007)
Am J Med Genet. 143A: 505-17


https://doi.org/10.1002/ajmg.a.31535

 

Mosaic Trisomy 18 in a Five-Month-Old Infant
Fitas AL, Paiva M, Cordeiro AI, Nunes L, Cordeiro-Ferreira G (2013)
Case Rep Pediatr. 2013: 929861


https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678436/

 

 

Combined Studies

 
 

Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: Implications and recommendations
Bruns DA (2015)
Am J Med Genet Part A. 167A: 1807-15


https://doi.org/10.1002/ajmg.a.37102

 

Communication ability in persons with trisomy 18 and trisomy 13
Braddock B, McDaniel J, Spragge S, Loncke F, Braddock SR, Carey JC (2012)
Augment Altern Commun. 28(4):266-77


https://www.ncbi.nlm.nih.gov/pubmed/23256858

 

 
 

Intensive cardiac management in patients with trisomy 13 or trisomy 18.
Kaneko Y, Kobayashi J, Yamamoto Y et al (2008)
Am J Med Genet A. 146A(11): 1372-80


https://www.ncbi.nlm.nih.gov/pubmed/18412275

 

Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium)
Graham EM, Bradley SM, Shirali GS, Hills CB, Atz AM; Pediatric Cardiac Care Consortium (2004)
Am J Cardiol. 93(6):801-3.


https://www.ncbi.nlm.nih.gov/pubmed/15019900

 

 


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