The association of a fragile site on chromosome 10 with the Sturge-Weber syndrome and congenital glaucoma

Autor: Traboulsi, Elias, Dudin, Gertrud, To'mey, Karim, Bashow, Ahmad, Solh, Hassan
Zdroj: Ophthalmic Genetics; 1983, Vol. 3 Issue: 3 p135-140, 6p
Abstrakt: A folic acid sensitive fragile site on chromosome 10q23 in a case of Sturge-Weber syndrome with unilateral glaucoma is described. The literature reporting such chromosomal fragile sites is reviewed, and the significance of this abnormality in relation with various congenital malformations is discussed.
Databáze: Supplemental Index