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Trisomy 22 in a newborn with multiple malformations

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Summary

A case of complete trisomy 22 in live-born female child with multiple malformations is reported. The karyotype of the index patient had 46 chromosomes, with one chromosome 22 missing and one supranumerary metacentric chromosome. Different banding methods and in situ hybridization revealed that the extra chromosome consists of the long arms and a part of the short arms of two chromosomes 22. Our report supplies further proof that a fetus with complete trisomy 22 can occasionally survive to term, but the condition is not compatible with life over a long period.

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References

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Correspondence to I. Voiculescu.

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Voiculescu, I., Back, E., Duncan, A.M.V. et al. Trisomy 22 in a newborn with multiple malformations. Hum Genet 76, 298–301 (1987). https://doi.org/10.1007/BF00283629

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Index Patient
  • Female Child
  • Extra Chromosome