Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8).
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.
Scott
J A
JA
Department of Paediatric Ophthalmology, Royal Liverpool Children's Hospital, Merseyside, England.
Howard
P J
PJ
Smith
P A
PA
Fryer
A
A
Easty
D L
DL
Patterson
A
A
Kaye
S B
SB
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002898:Chromosomes, Human, Pair 8; D003315:Cornea / Q000473:pathology; D003318:Corneal Opacity / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D016039:Corneal Transplantation; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics / Q000473:pathology*; D012730:Sex Chromosomes; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*
D004247:DNA