Sclerocornea and interstitial deletion of the short arm of chromosome 6--(46XY del[6] [p22 p24]).
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.
Moriarty
A P
AP
South Wing Eye Department, St Thomas Hospital, London, UK.
Kerr-Muir
M G
MG
D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D003315:Cornea / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D012590:Sclera / Q000002:abnormalities*