Interstitial deletion of the long arm of chromosome 2: A case report and review of the literature

Summary

A girl with mental retardation and multiple anomalies was shown to have ade novo interstitial deletion of the long arm of chromosome 2(2q23.3→q24.2) by the use of high resolution banding technique. Review of the literature revealed that her clinical features resembled those of the previously reported cases with monosomy for the middle portion of 2q.

References

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Takahashi, Y., Narahara, K., Kikkawa, K. et al. Interstitial deletion of the long arm of chromosome 2: A case report and review of the literature. Jap J Human Genet 30, 297–305 (1985) doi:10.1007/BF01907967

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Keywords

  • Interstitial Deletion
  • Syndactyly
  • Ridge Count
  • Large Cleft
  • Persistent Truncus Arteriosus

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