Genetic heterogeneity of Meckel syndrome.
Open Access
- 1 December 1997
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (12) , 1003-1006
- https://doi.org/10.1136/jmg.34.12.1003
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.Keywords
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