Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.

@article{Luo2000NeuralTD,
  title={Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.},
  author={Jiang-hong Luo and Nancy E. Balkin and J F Stewart and John F. Sarwark and Joel Charrow and Jeffrey S. Nye},
  journal={American journal of medical genetics},
  year={2000},
  volume={91 3},
  pages={227-30}
}
Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and ambiguous genitalia. Cytogenetic and fluorescence in situ hybridization analysis showed a de novo 46,XY,del(13)(q33.2-->qter) with no visible translocation. By using microsatellite markers, the… CONTINUE READING
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