Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.

@article{AlGazali2001AbnormalFM,
  title={Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.},
  author={Lihadh Al-Gazali and Rengasamy Padmanabhan and Stepan Melnyk and Poravuth Yi and Igor P Pogribny and Marta Pogribna and Mustafa Bakir and Zuhairi Abd. Hamid and Y M Abdulrazzaq and Adekunle Dawodu and S. Jill James},
  journal={American journal of medical genetics},
  year={2001},
  volume={103 2},
  pages={128-32}
}
The association of neural tube defects (NTDs) with Down syndrome (trisomy 21) and altered folate metabolism in both mother and affected offspring provide a unique opportunity for insight into the etiologic role of folate deficiency in these congenital anomalies. We describe here the case of a male child with trisomy 21, cervical meningomyelocele, agenesis of corpus callosum, hydrocephaly, cerebellar herniation into the foramen magnum, and shallow posterior cranial fossa. Molecular analysis of… CONTINUE READING
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