Définition :
Dans une cellule en division après la synthèse de l'ADN, un chromosome est composé de deux "bras" ou sections parallèles identiques, les chromatides [voir glossaire] soeurs, connectées à un point de constriction appelé le centromère. [voir glossaire]
Le bras court du chromosome est marqué le "p". Le bras long du chromosome est marqué le "q". L'endroit du centromère sur chaque chromosome donne au chromosome sa forme caractéristique, et peut-être employé pour aider à décrire l'endroit des gènes spécifiques.
Les anomalies chromosomiques :
On appelle anomalies chromosomiques tout remaniement du nombre ou de structure des chromosomes.
Ces remaniements peuvent s'observer soit de manière constitutionnelle (ils sont alors présents dès la naissance) soit de manière acquise au cours de processus malins. Ils peuvent impliquer un ou plusieurs chromosomes.
Leurs conséquences sont variables en fonction du remaniement considéré. En règle générale, les remaniements dits équilibrés (c'est-à-dire sans perte ni gain de matériel génétique) n'ont habituellement pas de conséquence pour le sujet porteur alors que les remaniements déséquilibrés se traduisent par des manifestations cliniques d'autant plus graves que la perte ou le gain de matériel est plus important.
Le syndrome de Klinefelter rentre dans la catégorie des anomalies de nombre.
Document lu et validé par le Dr Nicole MORICHON - DELVALLEZ (Hôpital Necker).
Document écrit le 23 janvier 2007
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