Histopathology and Molecular Cytogenetics of a Corneal Opacity Associated with the Trisomy 8 Mosaic Syndrome (46,XY/47,XY, + 8)
作者:
J. Scott,
Peter Howard,
Peter Smith,
Alan Fryer,
David Easty,
Alan Patterson,
Stephen Kaye,
期刊:
Cornea
(OVID Available online 1997)
卷期:
Volume 16,
issue 1
页码: 35-41
ISSN:0277-3740
年代: 1997
出版商: OVID
关键词: Corneal opacity;Trisomy 8 mosaic syndrome;Lamellar keratoplasty;Fluorescence in situ hybridisation
数据来源: OVID
摘要:
The trisomy 8 mosaic syndrome (Tr8MS), karyotype 46,XY/47,XY, + 8, is a rare multisystem disorder that may be associated with corneal opacity. We report the case of a dysmorphic infant with multiple congenital abnormalities referred to our unit with a congenital corneal opacity. Subsequent chromosomal analysis of peripheral leucocytes demonstrated constitutional Tr8MS. At 4 years of age, lamellar keratoplasty was performed. Histological examination confirmed the lesion to be consistent with a corneal choristoma. Cytogenetic studies using in situ hybridisation techniques showed the presence of trisomic cells in cell culture derived from the tissue in higher proportion (92%) than in the blood (44%). Amplification of thec-myconcogene on chromosome-8 could not be detected in cells cultured from the corneal lesion. Although not proof, these findings lend support to the concept of the corneal lesion representing a focus of viable trisomic cells rather than an inflammatory response to a nidus of effete cells
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