Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8).

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.

• Authors: J A Scott, P J Howard, P A Smith, A Fryer, D L Easty, A Patterson, S B Kaye
• Journal: Cornea (Cornea) Vol. 16 Issue 1 Pg. 35-41 (Jan 1997) ISSN: 0277-3740 [Print] United States
• PMID: 8985632 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA

Topics

• Abnormalities, Multiple (genetics, pathology)
• Adult
• Chromosomes, Human, Pair 8
• Cornea (pathology)
• Corneal Opacity (genetics, pathology, surgery)
• Corneal Transplantation
• DNA (analysis)
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Infant, Newborn
• Mosaicism
• Sex Chromosome Aberrations (genetics, pathology)
• Sex Chromosomes
• Syndrome
• Trisomy (genetics)