Biomaterial Database

Sclerocornea and interstitial deletion of the short arm of chromosome 6--(46XY del[6] [p22 p24]). 1992

A P Moriarty, and M G Kerr-Muir

South Wing Eye Department, St Thomas Hospital, London, UK.

The interstitial deletion of the short arm of chromosome (6)--46 XY del (6) (p22.3 p24) is unrecorded. The ophthalmic findings in a dysmorphic infant included peripheral sclerocornea and epicanthal folds with upslanting palpebral fissures. We present a short review of sclerocornea and the ophthalmic findings of infants with anomalies of chromosome 6. Our findings provide further evidence that genes influencing the development of the anterior segment are located on the distal portion of the short arm of chromosome 6.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002896	Chromosomes, Human, Pair 6	A specific pair GROUP C CHROMSOMES of the human chromosome classification.	Chromosome 6
D003315	Cornea	The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)	Corneas
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012590	Sclera	The white, opaque, fibrous, outer tunic of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea. It is essentially avascular but contains apertures for vessels, lymphatics, and nerves. It receives the tendons of insertion of the extraocular muscles and at the corneoscleral junction contains the CANAL OF SCHLEMM. (From Cline et al., Dictionary of Visual Science, 4th ed)	Scleral Spur,Scleral Spurs,Scleras