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Rwanda Medical Journal
Rwanda Health Communication Center - Rwanda Biomedical Center (RHCC - RBC)
ISSN: 2079-097X(print); 2410-8626(online)
Vol. 70, No. 2, 2013, pp. 27-28
Bioline Code: rw13014
Full paper language: English
Document type: Case Report
Document available free of charge

Rwanda Medical Journal, Vol. 70, No. 2, 2013, pp. 27-28

 en A Case of Rwandan Patient with Ring Chromosome 15 Syndrome
Hitayezu, J.; Uwineza, A.; Murorunkweri, S.; Ndinkabandi, J. & Mutesa, L.

Abstract

Ring chromosome 15 is a rare disorder. The mechanism of ring chromosome formation is usually associated with loss of genetic material. Its clinical features are nonspecific with a wide spectrum ranging from a near normal phenotype to multiple malformations. We are herein reporting a first case of a Rwandan patient who was a 30 month-old female child with ring chromosome 15 syndrome. He presented with a growth delay and café-au-lait spots among other common features found in this syndrome. The diagnosis was confirmed by karyotype.

Keywords
Ring chromosome 15; growth retardation; Rwandan patient

 
 fr
Hitayezu, J.; Uwineza, A.; Murorunkweri, S.; Ndinkabandi, J. & Mutesa, L.

Résumé

Le chromosome 15 en anneau est une anomalie rare. Le mécanisme de formation des chromosomes en anneau résulte en perte du matériel génétique. Les patients affectés par ce syndrome présentent un spectre large et non-spécifique de manifestations cliniques pouvant aller du phénotype presque normal à plusieurs malformations. Nous rapportons ici le premier cas d’une patiente Rwandaise âgée de 30 mois ayant un chromosome 15 en anneau. Elle présentait des signes cliniques retrouvés dans ce syndrome tel qu’un retard de croissance et des taches café-au-lait. Le diagnostic a été confirmé par le caryotype.

Mots Clés
Chromosome 15 en anneau; retard de croissance; patiente Rwandais

 
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