Genetic heterogeneity of Meckel syndrome. Issue 12 (December 1997)

• Record Type: Journal Article
• Authors: Roume, J; Ma, H W; Le Merrer, M; Cormier-Daire, V; Girlich, D; Genin, E; Munnich, A
• Is Part Of: Journal of medical genetics. Volume 34:Issue 12(1997)
• Page Start: 1003
• Page End: 1006
• Publication Date: 1997-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.12.1003
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this population. Here, we report the exclusion of chromosome 17q21-q24 in eight typical MKS families of North African and Middle Eastern ancestry and provide evidence for genetic heterogeneity of this condition.