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X-linked spina bifida

MIM.300293

Thursday 9 February 2006

Synopsis

- lumbosacral spina bifida
- myeloschisis
- panhypopituitarism

Associations

- de novo/autosomal translocation t(X;22)(q27;q12.1)
- duplication of Xq26-q27

See also

- spina bifida
- NTDs (neural tube defects)

References

- Fryns, J. P.; Devriendt, K.; Moerman, P. : Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X/autosomal translocation (t(X;22)(q27;q121)). (Letter) Genet. Counsel. 7: 159-160, 1996.

- Goerss, J. B.; Karnes, P. S.; Thibodeau, S. N.; Johnson, D. D.; Zimmerman, D.; Dewald, G. W. : Cytogenetic and molecular studies of a duplication of Xq26 and Xq27 in two brothers with neural tube defects. (Abstract) Am. J. Hum. Genet. 53 (suppl.): A440, 1993.

- Hol, F. A.; Schepens, M. T.; van Beersum, S. E. C.; Redolfi, E.; Affer, M.; Vezzoni, P.; Hamel, B. C. J.; Karnes, P. S.; Mariman, E. C. M.; Zucchi, I. : Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics 69: 174-181, 2000. PubMed ID : 11031100