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A deletion in chromosome 22 can cause digeorge syndrome

Summary

An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter→20q11 and monosomy 22pter→22q11 was found in four individuals belonging to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.

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Correspondence to Albert de la Chapelle.

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de la Chapelle, A., Herva, R., Koivisto, M. et al. A deletion in chromosome 22 can cause digeorge syndrome. Hum Genet 57, 253–256 (1981). https://doi.org/10.1007/BF00278938

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Chromosomal Rearrangement
  • Digeorge Syndrome
  • Band 22q11