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J Med Genet. 1979 June; 16(3): 234–235.
PMCID: PMC1012701

The Prader-Willi syndrome with a 15/3 translocation.


A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndrome is discussed.

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Selected References

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  • BUHLER EM, ROSSIER R, BODIS I, VULLIET V, BUHLER UK, STALDER G. [Chromosomal translocation in a mentally deficient child with cryptorchidism]. Acta Paediatr. 1963 Mar;52:177–182. [PubMed]
  • Burkholder GD, Comings DE. Do the Giemsa-banding patterns of chromosomes change during embryonic development? Exp Cell Res. 1972 Nov;75(1):268–271. [PubMed]
  • Hawkey CJ, Smithies A. The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature. J Med Genet. 1976 Apr;13(2):152–157. [PMC free article] [PubMed]
  • Schneider HJ, Zellweger H. Forme fruste of the Prader-Willi syndrome (HHHO) and balanced D-E translocation. Helv Paediatr Acta. 1968 Apr;23(2):128–135. [PubMed]
  • Sylvester PE, Richards BW, Rundle AT, Stewart A. Pathological observations on a male patient with D-ring chromosome. J Ment Defic Res. 1971 Sep;15(3):207–223. [PubMed]

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