1. CASE PRESENTATION This is a two-day old male infant, born weighting 2730 grams (six pounds, two ounces) after a full-term pregnancy complicated by influenza in the first…

Slide 1 Bridge 2010, Bristol, May 13-14, 2010 DIAGNOSTIC SCHEDULE OF RARE GENETIC DISORDERS IN THE UNIVERSITY OF DEBRECEN, HUNGARY Éva Oláh Debrecen CLINICAL GENETIC CENTER,…

Slide 1 Clinical detective stories solutions Genealogy - problems seminar No 434, course: Heredity Slide 2 Pregnant woman, 36 years old. Family without any hereditary load.…

Slide 1 Bridge 2010, Bristol, May 13-14, 2010 Identification of sSMC – case 1. 47,XY, + mar(30%)/46,XY(70%) 47,XY,+der(8) Clinical symptoms - behaviour disturbances - mild…

Nutrition & Students with Disabilities The Developing Child Margaret McGough KIN 583 Nutrition & Students with Disabilities The Developing Child âTypicalâ diet…

1. The Single Ventricle Karim Rafaat, M.D. 2. The title “single ventricle” includes those lesions designated as both HLHS HRHS HLHS is far more common, and the strategy…

Dia 1 Postgraduate course Human Genetics 09/12/11 Bert Callewaert, MD, PhD Center for Medical Genetics Ghent University Hospital Principles of Molecular Disease: Lessons…

Variability and changes of genetic information, mutations RNDr Z.Polívková Lecture No 69 - GIE Mutations x polymorphisms Many genes have only one normal version = wild…

ORIGINAL ARTICLE PHENOTYPIC VARIATIONS IN WOLF- HIRSCHHORN SYNDROME *Corresponding Author: Doz. Elena Sukarova-Angelovska, Pediatric Clinic, Medical Faculty, Vodnjanska 17,