PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1979 June; 16(3): 234–235.
PMCID: PMC1012701

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

Abstract

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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (355K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
 
 

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • 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]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group