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Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8).
- Source :
-
Cornea [Cornea] 1997 Jan; Vol. 16 (1), pp. 35-41. - Publication Year :
- 1997
-
Abstract
- 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 the c-myc oncogene 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.
- Subjects :
- Abnormalities, Multiple genetics
Adult
Cornea pathology
Corneal Opacity genetics
Corneal Opacity surgery
Corneal Transplantation
DNA analysis
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Sex Chromosome Aberrations genetics
Syndrome
Abnormalities, Multiple pathology
Chromosomes, Human, Pair 8
Corneal Opacity pathology
Mosaicism
Sex Chromosome Aberrations pathology
Sex Chromosomes
Trisomy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0277-3740
- Volume :
- 16
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Cornea
- Publication Type :
- Academic Journal
- Accession number :
- 8985632