TERMIUM Plus®

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SYNDROME YEUX CHAT [1 record]

Record 1 2017-04-26

English

Subject field(s)
  • Genetics
  • The Eye
DEF

The "cat eye" syndrome is uncommon and is characterized by iridal and choroidal coloboma (giving the appearance of cat eyes), anal atresia, and genitourinary and auricular anomalies. There is usually an associated chromosomal abnormality characterized by an extra, small, acrocentric fragment.

CONT

Recently, one of us (P.S.G.) reported three further cases of the cat eye syndrome and emphasized the significant variation in length of the abnormal chromosome and the mosaicism that frequently occurs.

French

Domaine(s)
  • Génétique
  • Oeil
DEF

Le syndrome de l'œil de chat évoque chez le porteur d'un petit chromosome surnuméraire un ensemble polymalformatif pouvant comporter cliniquement un colobone irien, une atrésie anale, des appendices ou fistules préauriculaires.

CONT

Le syndrome de l'œil de chat se présente comme une affection dominante. Bien que l'on puisse invoquer une non-disjonction plus fréquente en rapport avec les masses d'hétérochromatine et leurs facilités d'échange, le chromosome surnuméraire se comporte en univalent et migre au hasard vers l'un des pôles cellulaires avec une probabilité de 50%.

Spanish

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