UNEXPECTED FAMILIAL RECURRENCE OF IRIS COLOBOMA - A DELAYED MUTATION MECHANISM

Authors
BARROSNUNEZ P MEDINA C MENDOZA R SANCHEZCORONA J GARCIACRUZ D
Citation
P. Barrosnunez et al., UNEXPECTED FAMILIAL RECURRENCE OF IRIS COLOBOMA - A DELAYED MUTATION MECHANISM, Clinical genetics, 48(3), 1995, pp. 160-161
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
48
Issue
3
Year of publication
1995
Pages
160 - 161
Database
ISI
SICI code
0009-9163(1995)48:3<160:UFROIC>2.0.ZU;2-0
Abstract
Typical isolated ocular coloboma is a congenital abnormality caused by a defective closure of the embryonic fissure of the optic cup. Althou gh an irregular autosomal dominant mechanism of inheritance has been p roposed, there is some evidence of other modes of transmission and eti ologies. This report shows an unexpected recurrence of iris coloboma, occurring in three sibships of the same family, that could be explaine d by a ''delayed mutation'' or ''premutation'' mechanism.