Trisomy Disorders

Archive for January 2009

Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.
Clin Genet. 2008 Nov 17
Freeman SB, Torfs CP, Romitti PA, Royle MH, Druschel C, Hobbs CA, Sherman SL.
Department of Human Genetics, Emory University, Atlanta, GA, USA.
We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based [...]

Congenital heart disease in children with Down’s syndrome: Turkish experience of 13 years.
Acta Cardiol. 2008 Oct
Nisli K, Oner N, Candan S, Kayserili H, Tansel T, Tireli E, Karaman B, Omeroglu RE, Dindar A, Aydogan U, Başaran S, Ertugrul T.
Paediatric Cardiology Division, Paediatrics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. kemalnisli@yahoo.com
BACKGROUND: Down’s syndrome (DS) is [...]

Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
Clin Dysmorphol. 2009 Jan
Jezela-Stanek A, Dobrzańska A, Maksym-Gasiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M.
Department of Medical Genetics, Children’s Memorial Health Institute, Warsaw, Poland. jezela@gmail.com
We describe the clinical characteristics of two patients with cat-eye syndrome (CES, MIM #115470) [...]

Miracle Children Survive Against the Odds

Posted by: patoconnor on: January 4, 2009

Miracle Children Survive Against the Odds
OPRAH.com) — A baby who never uttered a word touched the hearts of nearly a million people.
A second-grader with so much courage, people around the world called him a hero.
A 6-year-old boy who was never supposed to walk — and now won’t stop running.
The stories of these [...]


 

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