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Rwanda Medical Journal
Rwanda Health Communication Center - Rwanda Biomedical Center (RHCC - RBC)
ISSN: 2079-097X
EISSN: 2079-097X
Vol. 68, No. 3, 2010, pp. 5-17
Bioline Code: rw10015
Full paper language: English
Document type: Research Article
Document available free of charge

Rwanda Medical Journal, Vol. 68, No. 3, 2010, pp. 5-17

 fr
Mutesa, L.; Uwineza, A.; Hellin, A.C.; Mambo Muvunyi, C.; Vanbellinghen, J.F.; Umurerwa, L.; Muhorakeye, C.; Surwumwe, J.B.; Nyundo, M. & et al.

Résumé

La Faculté de Médecine de l’Université Nationale du Rwanda a ouvert un département de Génétique Médicale en 2006. Celui-ci est accessible aux patients Rwandais et ceux provenant des régions avoisinantes. Les services offerts comprennent les analyses techniques et le conseil génétique chez les patients atteints de malformations congénitales, d’anomalies chromosomiques, de retard mental, de maladies moléculaires, d’infertilité primaire ou de fausses couches à répétitions. L’augmentation continue du nombre de consultations nous permet de donner un aperçu général des maladies génétiques chez les patients Rwandais, et souligne la nécessité d’un service de génétique au Rwanda et dans la région environnante, en offrant les actes techniques nécessaires. L’objectif est la prévention et le traitement des maladies génétiques.

Mots Clés
maladies génétiques; étude de surveillance; analyse génétique; patients Rwandais

 
 en A SURVEY OF GENETIC DISEASES IN RWANDA
Mutesa, L.; Uwineza, A.; Hellin, A.C.; Mambo Muvunyi, C.; Vanbellinghen, J.F.; Umurerwa, L.; Muhorakeye, C.; Surwumwe, J.B.; Nyundo, M. & et al.

Abstract

The Department of Medical Genetics at the Faculty of Medicine at National University of Rwanda opened in 2006. It is available to patients from our country and surrounding regions. The offer of different genetic diagnosis and genetic counseling includes congenital malformations, chromosomal abnormalities, mental retardation, molecular defects, antenatal and prenuptial genetic counseling with emphasis on primary infertility and repeated miscarriages. The remarkable and continuous increase of parents referred to our Department in recent years prompted us to present a summary of our activities, with providing a general overview of genetic diseases among Rwandan patients and confirm the need of genetic department in Rwanda and in the surrounding regions, in order to prevent and treat genetic diseases.

Keywords
Genetic diseases; survey; genetic analysis; Rwandan patients

 
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Alternative site location: http://www.rwandamedicaljournal.org

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