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MICROPHTHALMIA [1 record]

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Record 1 1991-07-22

English

Subject field(s)
  • Genetics
CONT

We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. Cytogenetic analysis has shown the X chromosome breakpoint in both females to be at Xp22. 3. We suggest that this syndrome is the result of a deletion or disruption of DNA sequences in the region of Xp22. 3.

OBS

Tiré de: Journal of Medical Genetics, 1990, 27 (1), 59-63.

French

Domaine(s)
  • Génétique
CONT

La modification de l'expression de gènes intervenant dans le contrôle, positif ou négatif, de la prolifération cellulaire, et localisés à proximité des points de cassure, est probablement impliquée dans l'émergence des clones malins qui sont à l'origine de ces leucémies et lymphomes.

Spanish

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