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Rwanda Medical Journal
Rwanda Health Communication Center - Rwanda Biomedical Center (RHCC - RBC)
ISSN: 2079-097X(print); 2410-8626(online)
Vol. 69, No. 4, 2012, pp. 27-29
Bioline Code: rw12006
Full paper language: English
Document type: Research Article
Document available free of charge

Rwanda Medical Journal, Vol. 69, No. 4, 2012, pp. 27-29

 fr
UWINEZA, A.; HITAYEZU, J.; MURORUNKWELI, S.; NDINKABANDI, J. & MUTESA, L.

Résumé

La trisomie 21 ou syndrome de Down est la plus fréquente anomalie chromosomique chez l’homme avec une incidence estimée à 770 cas de nouveaunés vivants dans le monde. Cependant, la survenue d’une double anomalie chromosomique aneuploide intéressant les chromosomes autosomes ou chromosomes sexuels est un événement très rare et la majorité des cas rapportés sont liés à des formes de fausses couches spontanées. Nous rapportons ici un cas d’un patient Rwandais portant une double aneuploidie de trisomie 21 et le syndrome de Triple X; (48,XXX,+21). Le proband était un sujet de sexe féminin âgé de 8 mois présentant des symptômes typiques du syndrome de Down. En plus de ces symptômes, elle avait aussi des signes mineurs du syndrome de Triple X caracterisés par hypotonie and crises convulsives.

Mots Clés
Double aneuploide; Syndrome de Down; Syndrome de Triple X; 48, XXX,+21

 
 en AN UNUSUAL CASE OF DOUBLE ANEUPLOIDY OF DOWN SYNDROME ASSOCIATED WITH TRIPLE X SYNDROME: 48,XXX,+21
UWINEZA, A.; HITAYEZU, J.; MURORUNKWELI, S.; NDINKABANDI, J. & MUTESA, L.

Abstract

Down syndrome is the most common chromosomal abnormality in humans with an estimated incidence of one case in 770 live births. However, the occurrence of double aneuploidy involving autosome and or sex chromosome is a very rare phenomenon in lives born and the majority of reported cases are presented in form of spontaneous abortions. Here, we are reporting a case of a Rwandan patient with combination of trisomy 21 and triple X syndrome. The proband was 8-month-old female with typical features of Down syndrome. In additional to Down syndrome features, the child presented with minor features of triple X syndrome characterized by hypotonia and seizures.

Keywords
Double aneuploidy; Down syndrome; Triple X syndrome; 48, XXX,+21

 
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